RGDs registry under the 'Multisystemic disorders'
| Disorder Name (Total=18) | Aliases | Sub-Category | Gene | Indian Reports | Link |
|---|---|---|---|---|---|
| Hypoparathyroidism, deafness, renal disease syndrome Autosomal dominant |
•Barakat syndrome •Hypoparathyroidism-sensorineural deafness-renal disease syndrome |
- |
GATA3 GATA binding protein 3 |
Reports Updated as of Mar 09, 2023 |
PubMed |
| Alstrom syndrome Autosomal recessive |
•Alström Syndrome •Alstrom's syndrome |
- |
ALMS1 ALMS1 centrosome and basal body associated protein |
Reports Updated as of Nov 30, 2023 |
PubMed |
| Mosaic variegated aneuploidy syndrome 2 Autosomal recessive |
•Mosaic variegated aneuploidy syndrome |
- |
CEP57 centrosomal protein 57 |
Reports Updated as of Feb 01, 2024 |
PubMed |
| Aicardi-Goutieres syndrome 6 Autosomal recessive |
•Aicardi-Goutières syndrome •Encephalopathy with basal ganglia calcification •Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid •Pseudo-Torch syndrome •Aicardi-Toutieres syndrome •Type 6Aicardi-Goutieres syndrome 1 |
- |
ADAR adenosine deaminase RNA specific |
Reports Updated as of Jul 20, 2024 |
PubMed |
| Aicardi-Goutieres syndrome 4 Autosomal recessive |
•Aicardi-Goutières syndrome •Encephalopathy with basal ganglia calcification •Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid •Pseudo-Torch syndrome •Aicardi-Toutieres syndrome |
- |
RNASEH2A ribonuclease H2 subunit A |
Reports Updated as of Jul 20, 2024 |
PubMed |
| Autosomal recessive multiple pterygium syndrome Autosomal recessive |
•Autosomal recessive multiple pterygium syndrome •Escobar syndrome •Pterygium Colli syndrome •autosomal recessive non-lethal multiple pterygium syndrome •Escobar variant multiple pterygium syndrome •Multiple pterygium syndrome Escobar type •Multiple pterygium syndrome nonlethal type |
- |
CHRNG cholinergic receptor nicotinic gamma subunit CHRNA1 cholinergic receptor nicotinic alpha 1 subunit |
Reports Updated as of Feb 01, 2025 |
PubMed |
| Cerebellar ataxia-hypogonadism syndrome Autosomal recessive |
•Gordon-Holmes syndrome •luteinizing hormone-releasing hormone deficiency with ataxia •Cerebellar ataxia hypogonadotropic hypogonadism •Gordon Holmes syndrome •Lhrh deficiency and ataxia •Luteinizing hormone releasing hormone, deficiency of with ataxia |
- |
RNF216 ring finger protein 216 |
Reports Updated as of Feb 01, 2025 |
PubMed |
| Jervell and Lange-Nielsen syndrome Autosomal recessive |
•Jervell-Lange Nielsen syndrome •Jervell and Lange Nielsen syndrome •long QT interval-deafness syndrome |
- |
KCNQ1 potassium voltage-gated channel subfamily Q member 1 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 |
Reports Updated as of Feb 01, 2025 |
PubMed |
| Lethal multiple pterygium syndrome Autosomal recessive |
- |
CHRND cholinergic receptor nicotinic delta subunit CHRNA1 cholinergic receptor nicotinic alpha 1 subunit CHRNG cholinergic receptor nicotinic gamma subunit |
Reports Updated as of Feb 01, 2025 |
PubMed | |
| Zellweger spectrum disorders |
•Congenital iron overload •cerebrohepatorenal syndrome •Zellweger syndrome •Zellweger Spectrum •ZS •ZWS |
- |
PEX1 peroxisomal biogenesis factor 1 PEX6 peroxisomal biogenesis factor 6 PEX19 peroxisomal biogenesis factor 19 |
Reports Updated as of Feb 01, 2025 |
PubMed |
| Costello syndrome Autosomal dominant |
•Faciocutaneoskeletal syndrome •Fcs syndrome •congenital myopathy with excess of muscle spindles |
- |
HRAS HRas proto-oncogene, GTPase |
Reports Updated as of Feb 01, 2025 |
PubMed |
| Hereditary angioedema type 1 Autosomal dominant, Autosomal recessive |
•Deficiency of C1 esterase inhibitor |
Dermatitis |
SERPING1 serpin family G member 1 |
Reports Updated as of Feb 01, 2025 |
PubMed |
| Wolcott-Rallison dysplasia Autosomal recessive |
•Multiple epiphyseal dysplasia with early-onset diabetes mellitus •Wolcott-rallison syndrome •MED-IDDM syndrome •Wolcott Rallison syndrome |
- |
EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 |
Reports Updated as of Feb 01, 2025 |
PubMed |
| Meckel syndrome, type 4 Autosomal recessive |
•CEP290-Related Meckel Syndrome •Meckel-Gruber syndrome, type 4 |
- |
CEP290 centrosomal protein 290 TMEM218 transmembrane protein 218 |
Reports Updated as of Feb 26, 2025 |
PubMed |
| Rubinstein-Taybi syndrome due to CREBBP mutations Autosomal dominant |
•Broad thumbs and great toes, characteristic facies, and mental retardation •Rubinstein syndrome •Rubinstein-Taybi syndrome 1, incomplete •Rubinstein-Taybi syndrome 1 |
- |
CREBBP CREB binding protein EP300 E1A binding protein p300 |
Reports Updated as of Feb 26, 2025 |
PubMed |
| Popliteal pterygium syndrome Autosomal dominant |
•Autosomal dominant popliteal pterygium syndrome •popliteal pterygium syndrome 1 •popliteal pterygium syndrome, autosomal dominant •popliteal web syndrome |
- |
IRF6 interferon regulatory factor 6 |
Reports Updated as of Feb 26, 2025 |
PubMed |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Autosomal recessive |
•Cerebroocular dysgenesis •Chemke syndrome •COD-MD syndrome •Cerebroocular dysplasia muscular dystrophy syndrome •Hard +/- E syndrome •Hydrocephalus, agyria and retinal dysplasia •Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 •Pagon syndrome •WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMT1-RELATED •Warburg syndrome |
- |
POMT1 protein O-mannosyltransferase 1 |
Reports Updated as of Feb 26, 2025 |
PubMed |
| Cerebrooculofacioskeletal syndrome 2 Autosomal recessive |
- |
ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit |
Reports Updated as of Feb 26, 2025 |
PubMed |