Genetic Disorders with Defects

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This list provides an overview of various genetic disorders, detailing their associated genetic defects and the specific genes involved. Each entry includes the gene's location and mutations that contribute to the condition, offering a comprehensive resource for understanding these complex disorders.

Designed for quick reference, this compilation serves as a valuable tool for medical students and professionals alike. It facilitates a swift review of genetic disorders, enabling efficient learning and application of genetic knowledge in clinical practice.

1. Cystic Fibrosis
  • Genetic Defect: **CFTR mutation**
  • Gene: CFTR
  • Location: 7q31.2
2. Sickle Cell Anemia
  • Genetic Defect: **Single nucleotide substitution (Glu → Val)**
  • Gene: HBB
  • Location: 11p15.4
3. Duchenne Muscular Dystrophy
  • Genetic Defect: **Dystrophin gene mutation**
  • Gene: DMD
  • Location: Xp21.2
4. Hemophilia A
  • Genetic Defect: **Factor VIII gene mutation**
  • Gene: F8
  • Location: Xq28
5. Huntington's Disease
  • Genetic Defect: **CAG repeat expansion**
  • Gene: HTT
  • Location: 4p16.3
6. Marfan Syndrome
  • Genetic Defect: **Fibrillin-1 mutation**
  • Gene: FBN1
  • Location: 15q21.1
7. Fragile X Syndrome
  • Genetic Defect: **CGG repeat expansion**
  • Gene: FMR1
  • Location: Xq27.3
8. Phenylketonuria (PKU)
  • Genetic Defect: **Phenylalanine hydroxylase deficiency**
  • Gene: PAH
  • Location: 12q23.2
9. Tay-Sachs Disease
  • Genetic Defect: **Hexosaminidase A deficiency**
  • Gene: HEXA
  • Location: 15q23
10. Neurofibromatosis Type 1
  • Genetic Defect: **NF1 gene mutation**
  • Gene: NF1
  • Location: 17q11.2
11. Turner Syndrome
  • Genetic Defect: **45, X karyotype (monosomy X)**
  • Gene: SHOX
  • Location: Xp22.33
12. Down Syndrome
  • Genetic Defect: **Trisomy 21**
  • Gene: APP, DSCR1, ETS2
  • Location: 21q22.1
13. Klinefelter Syndrome
  • Genetic Defect: **47, XXY karyotype**
  • Gene: Not specific to a single gene
  • Location: Sex chromosomes
14. Prader-Willi Syndrome
  • Genetic Defect: **Paternal chromosome 15 deletion**
  • Gene: SNRPN
  • Location: 15q11-q13
15. Angelman Syndrome
  • Genetic Defect: **Maternal chromosome 15 deletion**
  • Gene: UBE3A
  • Location: 15q11-q13
16. Achondroplasia
  • Genetic Defect: **FGFR3 mutation**
  • Gene: FGFR3
  • Location: 4p16.3
17. Noonan Syndrome
  • Genetic Defect: **PTPN11 mutation**
  • Gene: PTPN11
  • Location: 12q24.1
18. Albinism
  • Genetic Defect: **TYR mutation**
  • Gene: TYR
  • Location: 11q14.3
19. Wilson's Disease
  • Genetic Defect: **ATP7B mutation**
  • Gene: ATP7B
  • Location: 13q14.3
20. Hereditary Spherocytosis
  • Genetic Defect: **ANK1 mutation**
  • Gene: ANK1
  • Location: 8p11.21
21. Retinitis Pigmentosa
  • Genetic Defect: **RHO mutation**
  • Gene: RHO
  • Location: 3q22.1
22. Becker Muscular Dystrophy
  • Genetic Defect: **Dystrophin gene mutation**
  • Gene: DMD
  • Location: Xp21.2
23. Gaucher Disease
  • Genetic Defect: **GBA mutation**
  • Gene: GBA
  • Location: 1q21
24. Ehlers-Danlos Syndrome
  • Genetic Defect: **COL5A1, COL5A2 mutations**
  • Gene: COL5A1, COL5A2
  • Location: 9q34.3, 2q14.2
25. Alport Syndrome
  • Genetic Defect: **COL4A5 mutation**
  • Gene: COL4A5
  • Location: Xq22.3
26. Charcot-Marie-Tooth Disease
  • Genetic Defect: **PMP22 duplication**
  • Gene: PMP22
  • Location: 17p12
27. Spinal Muscular Atrophy
  • Genetic Defect: **SMN1 deletion**
  • Gene: SMN1
  • Location: 5q13.2
28. Familial Hypercholesterolemia
  • Genetic Defect: **LDLR mutation**
  • Gene: LDLR
  • Location: 19p13.2
29. Thalassemia (Beta)
  • Genetic Defect: **HBB gene mutations**
  • Gene: HBB
  • Location: 11p15.4
30. Thalassemia (Alpha)
  • Genetic Defect: **HBA1, HBA2 gene deletions**
  • Gene: HBA1, HBA2
  • Location: 16p13.3
31. Myotonic Dystrophy
  • Genetic Defect: **CTG repeat expansion**
  • Gene: DMPK
  • Location: 19q13.32
32. Rett Syndrome
  • Genetic Defect: **MECP2 mutations**
  • Gene: MECP2
  • Location: Xq28
33. Cri-du-chat Syndrome
  • Genetic Defect: **Deletion of short arm of chromosome 5**
  • Gene: Multiple
  • Location: 5p
34. Xeroderma Pigmentosum
  • Genetic Defect: **Defects in DNA repair genes**
  • Gene: XPA, XPC, etc.
  • Location: Various
35. Ataxia Telangiectasia
  • Genetic Defect: **ATM gene mutations**
  • Gene: ATM
  • Location: 11q22.3
36. Waardenburg Syndrome
  • Genetic Defect: **PAX3 gene mutations**
  • Gene: PAX3
  • Location: 2q36.1
37. Li-Fraumeni Syndrome
  • Genetic Defect: **TP53 mutations**
  • Gene: TP53
  • Location: 17p13.1
38. Familial Adenomatous Polyposis
  • Genetic Defect: **APC gene mutations**
  • Gene: APC
  • Location: 5q22.2
39. Von Hippel-Lindau Syndrome
  • Genetic Defect: **VHL gene mutations**
  • Gene: VHL
  • Location: 3p25.3
40. Tuberous Sclerosis
  • Genetic Defect: **TSC1, TSC2 mutations**
  • Gene: TSC1, TSC2
  • Location: 9q34, 16p13.3
41. Williams Syndrome
  • Genetic Defect: **ELN gene deletion**
  • Gene: ELN
  • Location: 7q11.23
42. Bloom Syndrome
  • Genetic Defect: **BLM gene mutations**
  • Gene: BLM
  • Location: 15q26.1
43. Nijmegen Breakage Syndrome
  • Genetic Defect: **NBN gene mutations**
  • Gene: NBN
  • Location: 8q21.3
44. Canavan Disease
  • Genetic Defect: **ASPA gene mutations**
  • Gene: ASPA
  • Location: 17p13.2
45. Maple Syrup Urine Disease
  • Genetic Defect: **BCKDHA, BCKDHB, DBT mutations**
  • Gene: BCKDHA, BCKDHB, DBT
  • Location: 19q13.2, 6q14.1, 1p31.3
46. Fabry Disease
  • Genetic Defect: **GLA gene mutations**
  • Gene: GLA
  • Location: Xq22.1
47. Pompe Disease
  • Genetic Defect: **GAA gene mutations**
  • Gene: GAA
  • Location: 17q25.3
48. Menkes Disease
  • Genetic Defect: **ATP7A gene mutations**
  • Gene: ATP7A
  • Location: Xq21.1
49. Smith-Lemli-Opitz Syndrome
  • Genetic Defect: **DHCR7 gene mutations**
  • Gene: DHCR7
  • Location: 11q13.4
50. Niemann-Pick Disease
  • Genetic Defect: **SMPD1 gene mutations**
  • Gene: SMPD1
  • Location: 11p15.4
51. Bardet-Biedl Syndrome
  • Genetic Defect: **Mutations in BBS genes (BBS1, BBS2, etc.)**
  • Gene: BBS1, BBS2, etc.
  • Location: Various
52. Fanconi Anemia
  • Genetic Defect: **Mutations in FANCA, FANCC, etc.**
  • Gene: FANCA, FANCC, etc.
  • Location: Various
53. Mucopolysaccharidosis I (Hurler Syndrome)
  • Genetic Defect: **IDUA gene mutation**
  • Gene: IDUA
  • Location: 4p16.3
54. Mucopolysaccharidosis II (Hunter Syndrome)
  • Genetic Defect: **IDS gene mutation**
  • Gene: IDS
  • Location: Xq28
55. Mucopolysaccharidosis III (Sanfilippo Syndrome)
  • Genetic Defect: **Mutations in SGSH, NAGLU, etc.**
  • Gene: SGSH, NAGLU, etc.
  • Location: Various
56. Oculocutaneous Albinism
  • Genetic Defect: **TYR, OCA2 gene mutations**
  • Gene: TYR, OCA2
  • Location: 11q14.3, 15q12-q13.1
57. Hypophosphatemic Rickets
  • Genetic Defect: **PHEX gene mutation**
  • Gene: PHEX
  • Location: Xp22.11
58. Leigh Syndrome
  • Genetic Defect: **Mutations in mitochondrial DNA or nuclear DNA**
  • Gene: MT-ATP6, SURF1, etc.
  • Location: Various
59. Leigh Syndrome (Subacute Necrotizing Encephalomyelopathy)
  • Genetic Defect: **ATP6, SURF1 gene mutations**
  • Gene: ATP6, SURF1
  • Location: Mitochondrial
60. Congenital Adrenal Hyperplasia
  • Genetic Defect: **21-hydroxylase deficiency (CYP21A2 mutation)**
  • Gene: CYP21A2
  • Location: 6p21.33
61. Androgen Insensitivity Syndrome
  • Genetic Defect: **AR gene mutations**
  • Gene: AR
  • Location: Xq12
62. Congenital Hypothyroidism
  • Genetic Defect: **Mutations in TSHR, PAX8 genes**
  • Gene: TSHR, PAX8
  • Location: 14q31, 2q12-q14
63. Usher Syndrome
  • Genetic Defect: **MYO7A, USH2A mutations**
  • Gene: MYO7A, USH2A
  • Location: 11q13.5, 1q41
64. Wolfram Syndrome
  • Genetic Defect: **WFS1 mutations**
  • Gene: WFS1
  • Location: 4p16.1
65. Laron Syndrome
  • Genetic Defect: **GHR gene mutations**
  • Gene: GHR
  • Location: 5p13.1
66. McCune-Albright Syndrome
  • Genetic Defect: **GNAS gene mutations**
  • Gene: GNAS
  • Location: 20q13.32
67. Bloom Syndrome
  • Genetic Defect: **BLM gene mutations**
  • Gene: BLM
  • Location: 15q26.1
68. Seckel Syndrome
  • Genetic Defect: **ATR, RBBP8 mutations**
  • Gene: ATR, RBBP8
  • Location: 3q22, 18q21.1
69. Pierre Robin Sequence
  • Genetic Defect: **SOX9 mutations**
  • Gene: SOX9
  • Location: 17q24.3
70. Alagille Syndrome
  • Genetic Defect: **JAG1, NOTCH2 mutations**
  • Gene: JAG1, NOTCH2
  • Location: 20p12.2
71. Rubinstein-Taybi Syndrome
  • Genetic Defect: **CREBBP mutations**
  • Gene: CREBBP
  • Location: 16p13.3
72. Treacher Collins Syndrome
  • Genetic Defect: **TCOF1, POLR1C, POLR1D mutations**
  • Gene: TCOF1, POLR1C, POLR1D
  • Location: 5q32, 6p21.1
73. CHARGE Syndrome
  • Genetic Defect: **CHD7 gene mutations**
  • Gene: CHD7
  • Location: 8q12.1
74. DiGeorge Syndrome (22q11.2 Deletion Syndrome)
  • Genetic Defect: **Deletion of 22q11.2 region**
  • Gene: Multiple genes
  • Location: 22q11.2
75. Holt-Oram Syndrome
  • Genetic Defect: **TBX5 gene mutations**
  • Gene: TBX5
  • Location: 12q24.21
77. Saethre-Chotzen Syndrome
  • Genetic Defect: **TWIST1 gene mutations**
  • Gene: TWIST1
  • Location: 7p21.2
78. Smith-Magenis Syndrome
  • Genetic Defect: **RAI1 gene deletions or mutations**
  • Gene: RAI1
  • Location: 17p11.2
79. Pfeiffer Syndrome
  • Genetic Defect: **FGFR1, FGFR2 gene mutations**
  • Gene: FGFR1, FGFR2
  • Location: 8p11.23, 10q26.13
80. Apert Syndrome
  • Genetic Defect: **FGFR2 gene mutations**
  • Gene: FGFR2
  • Location: 10q26.13
81. Stickler Syndrome
  • Genetic Defect: **COL2A1, COL11A1, COL11A2 gene mutations**
  • Gene: COL2A1, COL11A1, COL11A2
  • Location: 12q13.11, 1p21.1, 6p21.3
82. Cornelia de Lange Syndrome
  • Genetic Defect: **NIPBL, SMC1A, etc. gene mutations**
  • Gene: NIPBL, SMC1A
  • Location: 5p13.2, Xp11.22
83. Ellis-van Creveld Syndrome
  • Genetic Defect: **EVC, EVC2 gene mutations**
  • Gene: EVC, EVC2
  • Location: 4p16
84. Meckel-Gruber Syndrome
  • Genetic Defect: **Mutations in multiple genes (MKS1, TMEM67, etc.)**
  • Gene: MKS1, TMEM67, etc.
  • Location: Various
85. Holt-Oram Syndrome
  • Genetic Defect: **TBX5 gene mutations**
  • Gene: TBX5
  • Location: 12q24.21
86. Williams-Beuren Syndrome
  • Genetic Defect: **ELN gene deletion**
  • Gene: ELN
  • Location: 7q11.23
87. Holt-Oram Syndrome
  • Genetic Defect: **TBX5 gene mutations**
  • Gene: TBX5
  • Location: 12q24.21
88. Marfan Syndrome
  • Genetic Defect: **FBN1 gene mutations**
  • Gene: FBN1
  • Location: 15q21.1
89. Leri-Weill Dyschondrosteosis
  • Genetic Defect: **SHOX gene mutations**
  • Gene: SHOX
  • Location: Xp22.33
90. Joubert Syndrome
  • Genetic Defect: **Mutations in multiple genes (AHI1, NPHP1, etc.)**
  • Gene: AHI1, NPHP1, etc.
  • Location: Various
91. Toriello-Carey Syndrome
  • Genetic Defect: **Mutations in SMARCB1, etc.**
  • Gene: SMARCB1
  • Location: 22q11.23
92. Holt-Oram Syndrome
  • Genetic Defect: **TBX5 gene mutations**
  • Gene: TBX5
  • Location: 12q24.21
93. Rett Syndrome
  • Genetic Defect: **MECP2 gene mutations**
  • Gene: MECP2
  • Location: Xq28
94. Russell-Silver Syndrome
  • Genetic Defect: **Imprinting defect on chromosome 11p15.5 or maternal UPD chromosome 7**
  • Gene: Various
  • Location: 11p15.5, 7q
95. Noonan Syndrome
  • Genetic Defect: **Mutations in PTPN11, KRAS, etc.**
  • Gene: PTPN11, KRAS, etc.
  • Location: 12q24.1
96. Alagille Syndrome
  • Genetic Defect: **JAG1, NOTCH2 mutations**
  • Gene: JAG1, NOTCH2
  • Location: 20p12.2
97. Bardet-Biedl Syndrome
  • Genetic Defect: **Mutations in BBS genes**
  • Gene: BBS1, BBS10
  • Location: 11q13, 12q21.2
98. Patau Syndrome (Trisomy 13)
  • Genetic Defect: **Trisomy of chromosome 13**
  • Gene: Multiple genes involved
  • Location: Chromosome 13
99. Edwards Syndrome (Trisomy 18)
  • Genetic Defect: **Trisomy of chromosome 18**
  • Gene: Multiple genes involved
  • Location: Chromosome 18
100. Angelman Syndrome
  • Genetic Defect: **UBE3A gene deletions or mutations**
  • Gene: UBE3A
  • Location: 15q11-q13
101. WAGR Syndrome
  • Genetic Defect: **Deletion of chromosome 11p13**
  • Gene: PAX6, WT1
  • Location: 11p13
102. Kartagener Syndrome
  • Genetic Defect: **DNAI1, DNAH5 gene mutations**
  • Gene: DNAI1, DNAH5
  • Location: 9p21-p13, 5p15
103. Alport Syndrome
  • Genetic Defect: **COL4A3, COL4A4, COL4A5 mutations**
  • Gene: COL4A3, COL4A4, COL4A5
  • Location: 2q36-q37, Xq22
104. Goldenhar Syndrome
  • Genetic Defect: **Not well defined, possible multifactorial**
  • Gene: Unknown
  • Location: Various
105. Meckel Syndrome
  • Genetic Defect: **MKS1, TMEM67, etc. gene mutations**
  • Gene: MKS1, TMEM67
  • Location: 17q21.31, 8q21.11
106. Klippel-Feil Syndrome
  • Genetic Defect: **GDF6, GDF3, MEOX1 mutations**
  • Gene: GDF6, GDF3, MEOX1
  • Location: 8q22.1, 19p13.2
107. Crouzon Syndrome
  • Genetic Defect: **FGFR2 gene mutations**
  • Gene: FGFR2
  • Location: 10q26
108. Joubert Syndrome
  • Genetic Defect: **AHI1, NPHP1 mutations**
  • Gene: AHI1, NPHP1
  • Location: 6q23, 2q13
109. Pallister-Killian Syndrome
  • Genetic Defect: **Tetrasomy of chromosome 12p**
  • Gene: Chromosome 12p
  • Location: 12p
110. Wolf-Hirschhorn Syndrome
  • Genetic Defect: **Deletion of 4p16.3**
  • Gene: NSD2, LETM1, MSX1
  • Location: 4p16.3
111. Norrie Disease
  • Genetic Defect: **NDP gene mutations**
  • Gene: NDP
  • Location: Xp11.4
112. Proteus Syndrome
  • Genetic Defect: **AKT1 gene mutations**
  • Gene: AKT1
  • Location: 14q32.33
113. Williams Syndrome
  • Genetic Defect: **ELN gene deletion**
  • Gene: ELN
  • Location: 7q11.23
114. Ellis-Van Creveld Syndrome
  • Genetic Defect: **EVC, EVC2 gene mutations**
  • Gene: EVC, EVC2
  • Location: 4p16
115. Pfeiffer Syndrome
  • Genetic Defect: **FGFR1, FGFR2 gene mutations**
  • Gene: FGFR1, FGFR2
  • Location: 8p12, 10q26
116. Prader-Willi Syndrome
  • Genetic Defect: **Deletion of paternal chromosome 15q11-q13**
  • Gene: SNRPN
  • Location: 15q11-q13
117. Angelman Syndrome
  • Genetic Defect: **Deletion of maternal chromosome 15q11-q13**
  • Gene: UBE3A
  • Location: 15q11-q13
118. Leigh Syndrome
  • Genetic Defect: **MT-ATP6 gene mutations**
  • Gene: MT-ATP6
  • Location: Mitochondrial
119. Aicardi Syndrome
  • Genetic Defect: **X-linked mutations**
  • Gene: Unknown
  • Location: X chromosome
120. Ehlers-Danlos Syndrome (Classic Type)
  • Genetic Defect: **COL5A1, COL5A2 gene mutations**
  • Gene: COL5A1, COL5A2
  • Location: 9q34.3, 2q14.2
121. Ehlers-Danlos Syndrome (Vascular Type)
  • Genetic Defect: **COL3A1 gene mutations**
  • Gene: COL3A1
  • Location: 2q32.2
122. Canavan Disease
  • Genetic Defect: **ASPA gene mutations**
  • Gene: ASPA
  • Location: 17p13.2
123. Hurler Syndrome
  • Genetic Defect: **IDUA gene mutations**
  • Gene: IDUA
  • Location: 4p16.3
124. Hunter Syndrome
  • Genetic Defect: **IDS gene mutations**
  • Gene: IDS
  • Location: Xq28
125. Sanfilippo Syndrome
  • Genetic Defect: **SGSH, NAGLU gene mutations**
  • Gene: SGSH, NAGLU
  • Location: 17q25.3, 17q21
147. Homocystinuria
  • Genetic Defect: **CBS gene mutations**
  • Gene: CBS
  • Location: 21q22.3
148. Maple Syrup Urine Disease
  • Genetic Defect: **BCKDHA, BCKDHB, DBT gene mutations**
  • Gene: BCKDHA, BCKDHB, DBT
  • Location: 19q13.2, 6q14.1, 1p31.3
149. Mowat-Wilson Syndrome
  • Genetic Defect: **ZEB2 gene mutations**
  • Gene: ZEB2
  • Location: 2q22.3
150. Wiskott-Aldrich Syndrome
  • Genetic Defect: **WAS gene mutations**
  • Gene: WAS
  • Location: Xp11.23
151. Hypochondroplasia
  • Genetic Defect: **FGFR3 gene mutations**
  • Gene: FGFR3
  • Location: 4p16.3
152. Sturge-Weber Syndrome
  • Genetic Defect: **GNAQ gene mutations**
  • Gene: GNAQ
  • Location: 9q21
153. Peutz-Jeghers Syndrome
  • Genetic Defect: **STK11 gene mutations**
  • Gene: STK11
  • Location: 19p13.3
154. Joubert Syndrome
  • Genetic Defect: **Mutations in multiple genes (AHI1, CEP290, etc.)**
  • Gene: AHI1, CEP290
  • Location: Various
155. Lissencephaly
  • Genetic Defect: **LIS1, DCX gene mutations**
  • Gene: LIS1, DCX
  • Location: 17p13.3, Xq22.3
156. Phelan-McDermid Syndrome
  • Genetic Defect: **Deletion or mutation of SHANK3 gene**
  • Gene: SHANK3
  • Location: 22q13.3
157. Nijmegen Breakage Syndrome
  • Genetic Defect: **NBN gene mutations**
  • Gene: NBN
  • Location: 8q21.3
158. Pitt-Hopkins Syndrome
  • Genetic Defect: **TCF4 gene mutations**
  • Gene: TCF4
  • Location: 18q21.2
159. Rett Syndrome
  • Genetic Defect: **MECP2 gene mutations**
  • Gene: MECP2
  • Location: Xq28
160. Jacobsen Syndrome
  • Genetic Defect: **Deletion of terminal chromosome 11q**
  • Gene: Multiple
  • Location: 11q
161. Loeys-Dietz Syndrome
  • Genetic Defect: **TGFBR1, TGFBR2 mutations**
  • Gene: TGFBR1, TGFBR2
  • Location: 9q22.33, 3p24.1
162. Ectrodactyly
  • Genetic Defect: **TP63 gene mutations**
  • Gene: TP63
  • Location: 3q28
163. Brugada Syndrome
  • Genetic Defect: **SCN5A gene mutations**
  • Gene: SCN5A
  • Location: 3p22.2
164. Holt-Oram Syndrome
  • Genetic Defect: **TBX5 gene mutations**
  • Gene: TBX5
  • Location: 12q24.21
165. Griscelli Syndrome
  • Genetic Defect: **MYO5A, RAB27A, MLPH gene mutations**
  • Gene: MYO5A, RAB27A, MLPH
  • Location: 15q21.2, 2q21.2
166. Carpenter Syndrome
  • Genetic Defect: **RAB23 gene mutations**
  • Gene: RAB23
  • Location: 6p11.2
167. Kallmann Syndrome
  • Genetic Defect: **KAL1, FGFR1 mutations**
  • Gene: KAL1, FGFR1
  • Location: Xp22.3, 8p11.22
168. Hemochromatosis
  • Genetic Defect: **HFE gene mutations**
  • Gene: HFE
  • Location: 6p22.2
169. Williams Syndrome
  • Genetic Defect: **ELN gene deletion**
  • Gene: ELN
  • Location: 7q11.23
170. CHARGE Syndrome
  • Genetic Defect: **CHD7 gene mutations**
  • Gene: CHD7
  • Location: 8q12.1
171. VACTERL Association
  • Genetic Defect: **Multifactorial causes**
  • Gene: Multiple genes involved
  • Location: Various
172. Fanconi Anemia
  • Genetic Defect: **Mutations in FANCA, FANCC, etc.**
  • Gene: FANCA, FANCC, etc.
  • Location: Various
173. Hermansky-Pudlak Syndrome
  • Genetic Defect: **HPS1, AP3B1 gene mutations**
  • Gene: HPS1, AP3B1
  • Location: 10q24.2, 5q14.1
174. Alström Syndrome
  • Genetic Defect: **ALMS1 gene mutations**
  • Gene: ALMS1
  • Location: 2p13.1
175. Chediak-Higashi Syndrome
  • Genetic Defect: **LYST gene mutations**
  • Gene: LYST
  • Location: 1q42.1-q42.2
176. Congenital Adrenal Hyperplasia
  • Genetic Defect: **CYP21A2 gene mutations**
  • Gene: CYP21A2
  • Location: 6p21.33
177. Holt-Oram Syndrome
  • Genetic Defect: **TBX5 gene mutations**
  • Gene: TBX5
  • Location: 12q24.21
178. X-linked Agammaglobulinemia (Bruton Disease)
  • Genetic Defect: **BTK gene mutations**
  • Gene: BTK
  • Location: Xq21.3-q22
179. Pyruvate Dehydrogenase Deficiency
  • Genetic Defect: **PDHA1, PDHB gene mutations**
  • Gene: PDHA1, PDHB
  • Location: Xp22.12, 3p21.1
180. Fabry Disease
  • Genetic Defect: **GLA gene mutations**
  • Gene: GLA
  • Location: Xq22.1
181. Leigh Syndrome (Subacute Necrotizing Encephalomyelopathy)
  • Genetic Defect: **MT-ATP6 gene mutations**
  • Gene: MT-ATP6
  • Location: Mitochondrial
182. Joubert Syndrome
  • Genetic Defect: **AHI1, CEP290 gene mutations**
  • Gene: AHI1, CEP290
  • Location: 6q23, 12q21.32
183. Langer-Giedion Syndrome
  • Genetic Defect: **Deletion of chromosome 8q23-q24**
  • Gene: EXT1, TRPS1
  • Location: 8q23-q24
184. 22q11.2 Deletion Syndrome (DiGeorge Syndrome)
  • Genetic Defect: **Deletion of 22q11.2 region**
  • Gene: Multiple genes involved
  • Location: 22q11.2
185. Holt-Oram Syndrome
  • Genetic Defect: **TBX5 gene mutations**
  • Gene: TBX5
  • Location: 12q24.21
186. Saethre-Chotzen Syndrome
  • Genetic Defect: **TWIST1 gene mutations**
  • Gene: TWIST1
  • Location: 7p21.1
187. Smith-Magenis Syndrome
  • Genetic Defect: **Deletion of chromosome 17p11.2**
  • Gene: RAI1
  • Location: 17p11.2
188. Costello Syndrome
  • Genetic Defect: **HRAS gene mutations**
  • Gene: HRAS
  • Location: 11p15.5
189. Dravet Syndrome
  • Genetic Defect: **SCN1A gene mutations**
  • Gene: SCN1A
  • Location: 2q24.3
190. Alkaptonuria
  • Genetic Defect: **HGD gene mutations**
  • Gene: HGD
  • Location: 3q13.33
191. Maple Syrup Urine Disease
  • Genetic Defect: **BCKDHA, BCKDHB, DBT gene mutations**
  • Gene: BCKDHA, BCKDHB, DBT
  • Location: 19q13.2, 6q14.1, 1p31.3
192. Wilson Disease
  • Genetic Defect: **ATP7B gene mutations**
  • Gene: ATP7B
  • Location: 13q14.3
193. Friedreich's Ataxia
  • Genetic Defect: **FXN gene mutations**
  • Gene: FXN
  • Location: 9q21.11
194. Canavan Disease
  • Genetic Defect: **ASPA gene mutations**
  • Gene: ASPA
  • Location: 17p13.2
195. Neurofibromatosis Type 2
  • Genetic Defect: **NF2 gene mutations**
  • Gene: NF2
  • Location: 22q12.2
196. Joubert Syndrome
  • Genetic Defect: **Mutations in multiple genes (AHI1, TMEM67, etc.)**
  • Gene: AHI1, TMEM67
  • Location: Various
197. Charcot-Marie-Tooth Disease Type 1
  • Genetic Defect: **PMP22 gene duplication**
  • Gene: PMP22
  • Location: 17p12
198. Niemann-Pick Disease Type C
  • Genetic Defect: **NPC1, NPC2 gene mutations**
  • Gene: NPC1, NPC2
  • Location: 18q11.2, 14q24.3
199. Alagille Syndrome
  • Genetic Defect: **JAG1, NOTCH2 mutations**
  • Gene: JAG1, NOTCH2
  • Location: 20p12.2, 1p12
200. Wiskott-Aldrich Syndrome
  • Genetic Defect: **WAS gene mutations**
  • Gene: WAS
  • Location: Xp11.23
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