RGDs registry under the 'Multisystemic disorders'
| Disorder Name (Total=36) | 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 | ||
| 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 | |
| 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 | |
| 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 | |
| Neonatal ichthyosis-sclerosing cholangitis syndrome Autosomal recessive |
•Ichthyosis-hypotrichosis-sclerosing cholangitis syndrome •Ichthyosis, hypotrichosis, sclerosing cholangitis syndrome •IHSC •Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome •Nisch (neonatal ichthyosis, sclerosing cholangitis, hypotrichosis) syndrome •Ichthyosis-sclerosing cholangitis syndrome •ILVASC •NISCH syndrome |
CLDN1 claudin 1 |
Reports Updated as of Jan 05, 2026 |
PubMed | |
| Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability Autosomal dominant |
•Chorioretinal dysplasia-microcephaly-intellectual disability syndrome •lymphedema and retinal folds with ficrocephaly and microphthalmos •lymphedema, microcephaly and chorioretinopathy syndrome •microcephaly lymphedema chorioretinal dysplasia •microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development •microcephaly, lymphedema, chorioretinal dysplasia syndrome •mlcrd •Lymphedema, Microcephaly, Chorioretinopathy Syndrome •MCLMR •Microcephaly and chorioretinopathy with or without mental retardation, autosomal dominant •Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation |
KIF11 kinesin family member 11 |
Reports Updated as of Jan 05, 2026 |
PubMed | |
| Congenital anomalies of kidney and urinary tract 1 Autosomal dominant |
•CAKUT1 •Congenital Anomalies of the Kidney and Urinary Tract 1 •Congenital anomalies of kidney and urinary tract 1, susceptibility to •Renal hypodysplasia, nonsyndromic, 1 •Renal Hypodysplasia, Nonsyndromic, 1 •RHDNS •Non-Syndromic Renal Hypodysplasia 1 |
DSTYK dual serine/threonine and tyrosine protein kinase TRAP1 TNF receptor associated protein 1 CELSR3 cadherin EGF LAG seven-pass G-type receptor 3 PAX2 paired box 2 |
Reports Updated as of Jan 05, 2026 |
PubMed | |
| Trichorhinophalangeal dysplasia type I Autosomal dominant |
•Trichorhinophalangeal syndrome type I •Sugio-Kajii syndrome •Trichorhinophalangeal dysplasia (syndrome) types 1/3 •Trichorhinophalangeal dysplasia type i •Trichorhinophalangeal dysplasia types 1/3 •Trichorhinophalangeal syndrome i •Trichorhinophalangeal syndrome type 1 •Trichorhinophalangeal syndrome, type 1 •Trichorhinophalangeal syndrome, type i •TRPS i - trichorhinophalangeal syndrome i •Type i trichorhinophalangeal syndrome •Type iii trichorhinophalangeal syndrome •Trichorhinophalangeal syndrome, Type I •TRPS I •TRPS1 •TRPS 1 |
TRPS1 transcriptional repressor GATA binding 1 |
Reports Updated as of Jan 05, 2026 |
PubMed | |
| Wiedemann-Steiner syndrome Autosomal dominant |
•Growth deficiency and mental retardation with facial dysmorphism •WDSTS •Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome •Hypertrichosis, short stature, facial dysmorphism, developmental delay syndrome •Wiedemann Steiner syndrome |
KMT2A lysine methyltransferase 2A SMC1A structural maintenance of chromosomes 1A ARID1B AT-rich interaction domain 1B CHD7 chromodomain helicase DNA binding protein 7 |
Reports Updated as of Jan 05, 2026 |
PubMed | |
| Coffin-Lowry syndrome X-linked dominant |
•Mental retardation with osteocartilaginous abnormalities •CLS - coffin-lowry syndrome •Coffin Lowry syndrome •Coffin-Lowry syndrome, mild •Coffin-Lowry syndrome, x-linked dominant |
RPS6KA3 ribosomal protein S6 kinase A3 |
Reports Updated as of Jan 05, 2026 |
PubMed | |
| Cardiospondylocarpofacial syndrome Autosomal dominant |
•Forney syndrome •CSCF •Forney-Robinson-pascoe syndrome •Forney Robinson Pascoe syndrome •Mitral regurgitation with deafness and skeletal anomalies syndrome •Mitral regurgitation-deafness-skeletal anomalies syndrome •Mitral regurgitation-hearing loss-skeletal anomalies syndrome |
MAP3K7 mitogen-activated protein kinase kinase kinase 7 |
Reports Updated as of Jan 05, 2026 |
PubMed | |
| Arthrogryposis, renal dysfunction, and cholestasis 1 Autosomal recessive |
•ARCS1 •Arthrogryposis with renal dysfunction and cholestasis syndrome •ARC (arthrogryposis, renal dysfunction, cholestasis) syndrome •ARC syndrome • arthrogryposis-renal dysfunction-cholestasis •arthrogryposis-renal dysfunction-cholestasis syndrome •arthrogryposis, renal dysfunction and cholestasis (arc) syndrome •arthrogryposis, renal dysfunction, and cholestasis |
VPS33B VPS33B late endosome and lysosome associated VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog FBN1 fibrillin 1 CPAP centrosome assembly and centriole elongation protein |
Reports Updated as of Jan 05, 2026 |
PubMed | |
| AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome Autosomal dominant |
•Xia-Gibbs syndrome •AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome •AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome •At-hook dna binding motif containing 1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome •Autosomal dominant intellectual disability 25 •MRD25 |
AHDC1 AT-hook DNA binding motif containing 1 |
Reports Updated as of Jan 05, 2026 |
PubMed |