RGDs registry under the 'Multisystemic disorders'
| Disorder Name (Total=27) | 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 | |
| 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 | |
| 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 |
| 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 | |
| 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 | |
| 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 | |
| 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 | ||
| 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 | |
| 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 | |
| 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 | ||
| 8q24.3 microdeletion syndrome Autosomal dominant |
•Verheij syndrome •Chromosome 8q24.3 deletion syndrome |
PUF60 poly(U) binding splicing factor 60 |
Reports Updated as of Sep 08, 2025 |
PubMed | |
| Gorlin syndrome Autosomal dominant |
•Nevoid basal cell carcinoma syndrome •Basal cell nevus syndrome •Gorlin syndrome •Gorlin-Goltz syndrome •Multiple basal cell carcinomas •NBCCS •Nevoid basal cell cancer syndrome |
PTCH1 patched 1 PTCH2 patched 2 SUFU SUFU negative regulator of hedgehog signaling |
Reports Updated as of Jun 12, 2025 |
PubMed | |
| Zimmermann-Laband syndrome Autosomal dominant |
•Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome •Laband syndrome •Zimmerman Laband syndrome •Zimmermann-Laband syndrome type 1 •ZLS |
KCNH1 potassium voltage-gated channel subfamily H member 1 ATP6V1B2 ATPase H+ transporting V1 subunit B2 KCNN3 potassium calcium-activated channel subfamily N member 3 |
Reports Updated as of Nov 12, 2025 |
PubMed | |
| X-linked lissencephaly with abnormal genitalia X-linked recessive |
•X-linked Lissencephaly with agenesis of corpus callosum and genital anomaly syndrome •Lissencephaly, x-linked, type 2 •X-Linked Lissencephaly with ambiguous genitalia •x-linked lissencephaly with abnormal genitalia syndrome •x-linked lissencephaly with ambiguous genitalia •x-linked lissencephaly-agenesis of the corpus callosum-genital anomalies syndrome •x-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome •xlag (x-linked lissencephaly with abnormal genitalia) syndrome |
ARX aristaless related homeobox |
Reports Updated as of Nov 12, 2025 |
PubMed | |
| Dyggve-Melchior-Clausen syndrome Autosomal recessive |
•DMC syndrome •Dyggve-Melchior-Clausen disease •Dyggve Melchior Clausen syndrome •Dyggve-Melchior-Clausen dysplasia •Pseudo-Morquio disease type i •DMC disease |
DYM dymeclin |
Reports Updated as of Nov 12, 2025 |
PubMed | |
| X-linked intellectual disability, van Esch type X-linked recessive |
•Van Esch-O'Driscoll syndrome •Mental retardation, x-linked, syndromic, Van Esch-O''Driscoll type •Van Esch-O'Driscoll syndrome, x-linked recessive •VEODS •x-linked intellectual disability van esch type |
POLA1 DNA polymerase alpha 1, catalytic subunit |
Reports Updated as of Nov 12, 2025 |
PubMed | |
| Incontinentia pigmenti syndrome X-linked dominant |
•Bloch-Sulzberger syndrome •Bloch-Siemens syndrome •Incontinentia Pigmenti •Incontinentia pigmenti of Bloch-Sulzberger •Incontinentia pigmenti syndrome •Incontinentia pigmenti, x-linked dominant •Incontinentia pigmenti, familial male-lethal type •Incontinentia pigmenti, type ii •IP - Incontinentia Pigmenti |
IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma |
Reports Updated as of Nov 12, 2025 |
PubMed | |
| Alpha thalassemia-X-linked intellectual disability syndrome X-linked dominant |
•XLMR hypotonic face syndrome •ATR-X syndrome •Alpha thalassemia x-linked intellectual deficit •Alpha thalassemia x-linked intellectual disability syndrome •Alpha thalassemia/intellectual disability syndrome x-linked •Alpha-thalassemia x-linked intellectual disability syndrome •Alpha-thalassemia/impaired intellectual development syndrome, x-linked •Alpha-thalassemia/intellectual disability syndrome nondeletion type •Alpha-thalassemia/mental retardation syndrome, x-linked dominant •x-linked alpha-thalassemia-mental retardation syndrome •ATR, nondeletion type •Alpha thalassemia mental retardation syndrome, nondeletion type, X-linked •Alpha-Thalassemia X-Linked Intellectual Disability Syndrome •X-linked alpha-thalassemia-mental retardation syndrome |
ATRX ATRX chromatin remodeler GBA1 glucosylceramidase beta 1 |
Reports Updated as of Nov 12, 2025 |
PubMed | |
| Simpson-Golabi-Behmel syndrome type 1 X-linked recessive |
•Bulldog syndrome •Simpson-Golabi-Behmel syndrome •Dysplasia gigantism syndrome, x-linked •Golabi-Rosen syndrome •GPC3-related Simpson-Golabi-Behmel syndrome type 1 •Simpson dysmorphia syndrome •Sara Angers syndrome •x-linked dysplasia gigantism syndrome •sgb syndrome •dgsx •sdys •sgbs1 |
GPC3 glypican 3 |
Reports Updated as of Nov 12, 2025 |
PubMed | |
| Holt-Oram syndrome Autosomal dominant |
•Cardiac-limb syndrome •Heart-hand syndrome, type 1 •TBX5-Related Holt-Oram Syndrome •Ventriculo-radial syndrome •Atriodigital dysplasia type 1 •Holt Oram syndrome •HOS |
TBX5 T-box transcription factor 5 |
Reports Updated as of Nov 12, 2025 |
PubMed |