Hypoparathyroidism-Retardation-Dysmorphism Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: HYP134 MIFTS: 42	Hypoparathyroidism-Retardation-Dysmorphism Syndrome Categories: Genetic diseases, Neuronal diseases, Endocrine diseases, Fetal diseases, Rare diseases, Mental diseases
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Aliases & Classifications for Hypoparathyroidism-Retardation-Dysmorphism Syndrome

MalaCards integrated aliases for Hypoparathyroidism-Retardation-Dysmorphism Syndrome:

Name: Hypoparathyroidism-Retardation-Dysmorphism Syndrome ⁵⁷ ¹² ⁷⁵ ³⁷ ¹³ ⁴⁴ ¹⁵ ⁴⁰ ⁷³

Sanjad-Sakati Syndrome ⁵⁷ ¹² ⁵⁹ ⁷⁵ ⁵⁵

Hypoparathyroidism with Short Stature, Mental Retardation, and Seizures ⁵⁷ ⁷⁵

Hypoparathyroidism Retardation Dysmorphism Syndrome ²⁹ ⁶

Hrd Syndrome ¹² ⁵⁹

Hrds ⁵⁷ ⁷⁵

Hypoparathyroidism, Congenital, Associated with Dysmorphism, Growth Retardation, and Developmental Delay ⁵⁷

Hypoparathyroidism-Short Stature-Intellectual Disability-Seizures Syndrome ⁵⁹

Hypoparathyroidism with Short Stature, Mental Retardation and Seizures ¹²

Hypoparathyroidism-Intellectual Disability-Dysmorphism Syndrome ⁵⁹

Richardson-Kirk Syndrome ⁵⁹

Sss ⁵⁹

Characteristics:

Orphanet epidemiological data:

⁵⁹

sanjad-sakati syndrome
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

⁵⁷

Inheritance:
autosomal recessive

Miscellaneous:
allelic to kenny-caffey syndrome type 1

HPO:

³²

hypoparathyroidism-retardation-dysmorphism syndrome:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Neuronal diseases Endocrine diseases Mental diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other specified congenital malformation syndromes affecting multiple systems

Congenital malformation syndromes predominantly associated with short stature

Orphanet: ⁵⁹

Rare neurological diseases

Rare endocrine diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁷ 241410

Disease Ontology ¹² DOID:0060348

MeSH ⁴⁴ C537157 D007011 D008607 more

Orphanet ⁵⁹ ORPHA2323

UMLS via Orphanet ⁷⁴ C1855840

ICD10 via Orphanet ³⁴ Q87.1

MedGen ⁴² C1855840

KEGG ³⁷ H00622

SNOMED-CT via HPO ⁶⁹ 258211005 204878001 34911001 more

UMLS ⁷³ C1855840

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Summaries for Hypoparathyroidism-Retardation-Dysmorphism Syndrome

OMIM : ⁵⁷ HRDS is an autosomal recessive multisystem disorder characterized by intrauterine and postnatal growth retardation, infantile-onset hypoparathyroidism that can result in severe hypocalcemic seizures, dysmorphic facial features, and developmental delay (summary by Padidela et al., 2009 and Ratbi et al., 2015). (241410)

MalaCards based summary : Hypoparathyroidism-Retardation-Dysmorphism Syndrome, also known as sanjad-sakati syndrome, is related to hypoparathyroidism and sick sinus syndrome, and has symptoms including seizures An important gene associated with Hypoparathyroidism-Retardation-Dysmorphism Syndrome is TBCE (Tubulin Folding Cofactor E), and among its related pathways/superpathways are Metabolism of proteins and Chaperonin-mediated protein folding. Affiliated tissues include eye, pituitary and bone, and related phenotypes are intellectual disability and seizures

UniProtKB/Swiss-Prot : ⁷⁵ Hypoparathyroidism-retardation-dysmorphism syndrome: An autosomal recessive multisystem disorder characterized by hypoparathyroidism, intrauterine and postnatal growth retardation, psychomotor retardation, epilepsy, microcephaly, and facial dysmorphism.

Disease Ontology : ¹² An autosomal recessive disease characterized by permanent parathyroid hormone (PTH) deficiency, hypocalcemia, hyperphosphatemia, facial anomalies, and psychomotor retardation; it is seen among children born to consanguineous couple of Arab ethnicity.

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Related Diseases for Hypoparathyroidism-Retardation-Dysmorphism Syndrome

Diseases related to Hypoparathyroidism-Retardation-Dysmorphism Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	hypoparathyroidism	29.4	FAM111A PTH TBCE
2	sick sinus syndrome	11.7
3	hypoparathyroidism-intellectual disability-dysmorphism syndrome	11.6
4	sick sinus syndrome 2	11.5
5	stiff skin syndrome	11.2
6	sick sinus syndrome 1	11.0
7	sinus node disease and myopia	10.9
8	kenny-caffey syndrome	9.7	FAM111A TBCE TUBA1B

Graphical network of the top 20 diseases related to Hypoparathyroidism-Retardation-Dysmorphism Syndrome:

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Symptoms & Phenotypes for Hypoparathyroidism-Retardation-Dysmorphism Syndrome

Symptoms via clinical synopsis from OMIM:

⁵⁷

Head And Neck Ears:
low-set ears
posteriorly rotated ears

Head And Neck Head:
microcephaly

GenitourinaryInternal GenitaliaMale:
cryptorchidism

Neurologic Central Nervous System:
tetany
hypocalcemic seizures
delayed myelination
mental retardation
thin corpus callosum
more

Head And Neck Mouth:
bifid uvula
thin lips

Genitourinary External Genitalia Male:
micropenis

Skeletal:
patchy osteosclerosis
delayed bone age

Skeletal Hands:
small hands

Head And Neck Nose:
depressed nasal bridge
beaked nose

Head And Neck Face:
prominent forehead
long philtrum
micrognathia

Growth Other:
postnatal growth retardation
intrauterine growth retardation, severe

Laboratory Abnormalities:
hypocalcemia
hyperphosphatemia

Immunology:
recurrent bacterial infections
normal cell mediated immunity

Endocrine Features:
growth hormone deficiency
congenital hypoparathyroidism
low parathyroid hormone

Head And Neck Eyes:
deep-set eyes

Skeletal Feet:
small feet

Clinical features from OMIM:

241410

Human phenotypes related to Hypoparathyroidism-Retardation-Dysmorphism Syndrome:

⁵⁹ ³² (show all 49)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	intellectual disability ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0001249
2	seizures ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0001250
3	recurrent respiratory infections ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002205
4	delayed skeletal maturation ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0002750
5	depressed nasal bridge ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0005280
6	corneal opacity ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0007957
7	microcephaly ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000252
8	short stature ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0004322
9	myopathy ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0003198
10	long philtrum ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000343
11	micrognathia ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000347
12	short foot ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0001773
13	cryptorchidism ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000028
14	postnatal growth retardation ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0008897
15	external ear malformation ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0008572
16	ventriculomegaly ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0002119
17	intestinal obstruction ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0005214
18	deeply set eye ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000490
19	small hand ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0200055
20	low-set, posteriorly rotated ears ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000368
21	cellular immunodeficiency ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0005374
22	abnormality of dental enamel ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000682
23	hypocalcemia ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0002901
24	hypoplasia of penis ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0008736
25	spinal canal stenosis ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0003416
26	high forehead ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000348
27	convex nasal ridge ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000444
28	thin vermilion border ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000233
29	aplasia/hypoplasia affecting the eye ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0008056
30	astigmatism ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000483
31	severe intrauterine growth retardation ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0008846
32	hyperphosphatemia ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0002905
33	patchy osteosclerosis ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0005686
34	congenital hypoparathyroidism ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0008198
35	low-set ears ³²			HP:0000369
36	frontal bossing ³²			HP:0002007
37	abnormality of the dentition ⁵⁹		Frequent (79-30%)
38	prominent forehead ³²			HP:0011220
39	short palm ³²			HP:0004279
40	hypoparathyroidism ⁵⁹		Very frequent (99-80%)
41	tetany ³²			HP:0001281
42	bifid uvula ³²			HP:0000193
43	hypoplasia of the corpus callosum ³²			HP:0002079
44	recurrent bacterial infections ³²			HP:0002718
45	micropenis ³²			HP:0000054
46	posteriorly rotated ears ³²			HP:0000358
47	growth hormone deficiency ³²			HP:0000824
48	hypocalcemic seizures ³²			HP:0002199
49	delayed myelination ³²			HP:0012448

UMLS symptoms related to Hypoparathyroidism-Retardation-Dysmorphism Syndrome:

seizures

GenomeRNAi Phenotypes related to Hypoparathyroidism-Retardation-Dysmorphism Syndrome according to GeneCards Suite gene sharing:

²⁶

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Reduced shRNA abundance in FBW7 KO line	GR00369-A	8.8	B3GALNT2 TBCB TUBA1B

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Drugs & Therapeutics for Hypoparathyroidism-Retardation-Dysmorphism Syndrome

Search Clinical Trials , NIH Clinical Center for Hypoparathyroidism-Retardation-Dysmorphism Syndrome

Cochrane evidence based reviews: hypoparathyroidism-retardation-dysmorphism syndrome

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Genetic Tests for Hypoparathyroidism-Retardation-Dysmorphism Syndrome

Genetic tests related to Hypoparathyroidism-Retardation-Dysmorphism Syndrome:

#	Genetic test	Affiliating Genes
1	Hypoparathyroidism Retardation Dysmorphism Syndrome ²⁹	TBCE

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Anatomical Context for Hypoparathyroidism-Retardation-Dysmorphism Syndrome

MalaCards organs/tissues related to Hypoparathyroidism-Retardation-Dysmorphism Syndrome:

⁴¹

Eye, Pituitary, Bone

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Publications for Hypoparathyroidism-Retardation-Dysmorphism Syndrome

Articles related to Hypoparathyroidism-Retardation-Dysmorphism Syndrome:

#	Title	Authors	Year
1	Hypoparathyroidism-retardation-dysmorphism syndrome. ( 24339556 )	Kumar K.J....Mamatha S.	2013
2	Mutation in the TBCE gene is associated with hypoparathyroidism-retardation-dysmorphism syndrome featuring pituitary hormone deficiencies and hypoplasia of the anterior pituitary and the corpus callosum. ( 19491227 )	Padidela R....Dattani M.T.	2009
3	Hypoparathyroidism-retardation-dysmorphism syndrome in a girl: A new variant not caused by a TBCE mutation--clinical report and review. ( 16470743 )	Courtens W....Parvari R.	2006

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Genes for Hypoparathyroidism-Retardation-Dysmorphism Syndrome

Genes related to Hypoparathyroidism-Retardation-Dysmorphism Syndrome (1 elite genes):

(show all 11)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	TBCE	Tubulin Folding Cofactor E	Protein Coding	1411.13	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Genetic Tests ²⁹ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Publications Variants (show sections)	12389028 16938882 26336027 (more) 17184771 19491227 16624573 16470743
2	B3GALNT2	Beta-1,3-N-Acetylgalactosaminyltransferase 2	Protein Coding	18.83	GeneCards inferred via : Variants (show sections)
3	FAM111A	Family With Sequence Similarity 111 Member A	Protein Coding	16.72	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
4	TBCD	Tubulin Folding Cofactor D	Protein Coding	15.99	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
5	BCS1L	BCS1 Homolog, Ubiquinol-Cytochrome C Reductase Complex Chaperone	Protein Coding	14.71	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
6	PTH	Parathyroid Hormone	Protein Coding	13.41	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
7	TUBA1B	Tubulin Alpha 1b	Protein Coding	7.47	GeneCards inferred via : Publications (show sections)
8	TBCC	Tubulin Folding Cofactor C	Protein Coding	6.8	DISEASES inferred ¹⁵
9	TBCB	Tubulin Folding Cofactor B	Protein Coding	6.36	DISEASES inferred ¹⁵
10	ARL2	ADP Ribosylation Factor Like GTPase 2	Protein Coding	6.06	DISEASES inferred ¹⁵
11	TBCA	Tubulin Folding Cofactor A	Protein Coding	5.9	DISEASES inferred ¹⁵

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Variations for Hypoparathyroidism-Retardation-Dysmorphism Syndrome

ClinVar genetic disease variations for Hypoparathyroidism-Retardation-Dysmorphism Syndrome:

⁶

(show top 50) (show all 84)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	TBCE	NM_003193.4(TBCE): c.155_166delGCCACGAAGGGA (p.Ser52_Gly55del)	deletion	Pathogenic	rs767004810	GRCh37	Chromosome 1, 235564872: 235564883
2	TBCE	NM_003193.4(TBCE): c.155_166delGCCACGAAGGGA (p.Ser52_Gly55del)	deletion	Pathogenic	rs767004810	GRCh38	Chromosome 1, 235401557: 235401568
3	TBCE	TBCE, 2-BP DEL, 66AG	deletion	Pathogenic
4	TBCE	NM_001079515.2(TBCE): c.1113T> A (p.Cys371Ter)	single nucleotide variant	Pathogenic	rs121908384	GRCh37	Chromosome 1, 235600786: 235600786
5	TBCE	NM_001079515.2(TBCE): c.1113T> A (p.Cys371Ter)	single nucleotide variant	Pathogenic	rs121908384	GRCh38	Chromosome 1, 235437471: 235437471
6	TBCE	NM_003193.4(TBCE): c.847A> T (p.Ile283Phe)	single nucleotide variant	Uncertain significance	rs200022583	GRCh37	Chromosome 1, 235599714: 235599714
7	TBCE	NM_003193.4(TBCE): c.847A> T (p.Ile283Phe)	single nucleotide variant	Uncertain significance	rs200022583	GRCh38	Chromosome 1, 235436399: 235436399
8	TBCE	NM_001079515.2(TBCE): c.143_144delAG (p.Lys48Thrfs)	deletion	Likely pathogenic	rs758937799	GRCh38	Chromosome 1, 235401545: 235401546
9	TBCE	NM_001079515.2(TBCE): c.143_144delAG (p.Lys48Thrfs)	deletion	Likely pathogenic	rs758937799	GRCh37	Chromosome 1, 235564860: 235564861
10	TBCE	NM_003193.4(TBCE): c.998G> C (p.Ser333Thr)	single nucleotide variant	Likely benign	rs35579976	GRCh37	Chromosome 1, 235600671: 235600671
11	TBCE	NM_003193.4(TBCE): c.998G> C (p.Ser333Thr)	single nucleotide variant	Likely benign	rs35579976	GRCh38	Chromosome 1, 235437356: 235437356
12	TBCE	NM_003193.4(TBCE): c.253A> G (p.Ile85Val)	single nucleotide variant	Uncertain significance	rs143886167	GRCh37	Chromosome 1, 235577815: 235577815
13	TBCE	NM_003193.4(TBCE): c.253A> G (p.Ile85Val)	single nucleotide variant	Uncertain significance	rs143886167	GRCh38	Chromosome 1, 235414500: 235414500
14	TBCE	NM_003193.4(TBCE): c.1465C> A (p.Leu489Ile)	single nucleotide variant	Uncertain significance	rs143917509	GRCh37	Chromosome 1, 235611729: 235611729
15	TBCE	NM_003193.4(TBCE): c.1465C> A (p.Leu489Ile)	single nucleotide variant	Uncertain significance	rs143917509	GRCh38	Chromosome 1, 235448414: 235448414
16	TBCE	NM_003193.4(TBCE): c.214C> T (p.Pro72Ser)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs62620041	GRCh37	Chromosome 1, 235577776: 235577776
17	TBCE	NM_003193.4(TBCE): c.214C> T (p.Pro72Ser)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs62620041	GRCh38	Chromosome 1, 235414461: 235414461
18	TBCE	NM_003193.4(TBCE): c.-68G> C	single nucleotide variant	Uncertain significance	rs754235694	GRCh38	Chromosome 1, 235367468: 235367468
19	TBCE	NM_003193.4(TBCE): c.-68G> C	single nucleotide variant	Uncertain significance	rs754235694	GRCh37	Chromosome 1, 235530783: 235530783
20	TBCE	NM_003193.4(TBCE): c.100+64_100+65dupGT	duplication	Uncertain significance	rs886046148	GRCh38	Chromosome 1, 235380213: 235380214
21	TBCE	NM_003193.4(TBCE): c.100+64_100+65dupGT	duplication	Uncertain significance	rs886046148	GRCh37	Chromosome 1, 235543528: 235543529
22	TBCE	NM_003193.4(TBCE): c.460+14C> T	single nucleotide variant	Uncertain significance	rs143717755	GRCh38	Chromosome 1, 235419575: 235419575
23	TBCE	NM_003193.4(TBCE): c.460+14C> T	single nucleotide variant	Uncertain significance	rs143717755	GRCh37	Chromosome 1, 235582890: 235582890
24	TBCE	NM_003193.4(TBCE): c.614T> C (p.Val205Ala)	single nucleotide variant	Likely benign	rs16832611	GRCh38	Chromosome 1, 235430758: 235430758
25	TBCE	NM_003193.4(TBCE): c.614T> C (p.Val205Ala)	single nucleotide variant	Likely benign	rs16832611	GRCh37	Chromosome 1, 235594073: 235594073
26	TBCE	NM_003193.4(TBCE): c.737+11C> T	single nucleotide variant	Uncertain significance	rs181223923	GRCh38	Chromosome 1, 235434291: 235434291
27	TBCE	NM_003193.4(TBCE): c.737+11C> T	single nucleotide variant	Uncertain significance	rs181223923	GRCh37	Chromosome 1, 235597606: 235597606
28	TBCE	NM_003193.4(TBCE): c.808C> T (p.Leu270=)	single nucleotide variant	Uncertain significance	rs200169233	GRCh38	Chromosome 1, 235435815: 235435815
29	TBCE	NM_003193.4(TBCE): c.808C> T (p.Leu270=)	single nucleotide variant	Uncertain significance	rs200169233	GRCh37	Chromosome 1, 235599130: 235599130
30	TBCE	NM_003193.4(TBCE): c.1253A> G (p.Tyr418Cys)	single nucleotide variant	Uncertain significance	rs750744949	GRCh38	Chromosome 1, 235438905: 235438905
31	TBCE	NM_003193.4(TBCE): c.1253A> G (p.Tyr418Cys)	single nucleotide variant	Uncertain significance	rs750744949	GRCh37	Chromosome 1, 235602220: 235602220
32	TBCE	NM_003193.4(TBCE): c.60_62dup	duplication	Uncertain significance	rs886046152	GRCh38	Chromosome 1, 235448822: 235448824
33	TBCE	NM_003193.4(TBCE): c.60_62dup	duplication	Uncertain significance	rs886046152	GRCh37	Chromosome 1, 235612137: 235612139
34	TBCE	NM_003193.4(TBCE): c.*177T> C	single nucleotide variant	Uncertain significance	rs886046153	GRCh38	Chromosome 1, 235448939: 235448939
35	TBCE	NM_003193.4(TBCE): c.*177T> C	single nucleotide variant	Uncertain significance	rs886046153	GRCh37	Chromosome 1, 235612254: 235612254
36	TBCE	NM_003193.4(TBCE): c.-92C> G	single nucleotide variant	Uncertain significance	rs886046147	GRCh38	Chromosome 1, 235367444: 235367444
37	TBCE	NM_003193.4(TBCE): c.-92C> G	single nucleotide variant	Uncertain significance	rs886046147	GRCh37	Chromosome 1, 235530759: 235530759
38	TBCE	NM_003193.4(TBCE): c.-49T> C	single nucleotide variant	Likely benign	rs55980101	GRCh38	Chromosome 1, 235367487: 235367487
39	TBCE	NM_003193.4(TBCE): c.-49T> C	single nucleotide variant	Likely benign	rs55980101	GRCh37	Chromosome 1, 235530802: 235530802
40	TBCE	NM_003193.4(TBCE): c.100+15T> G	single nucleotide variant	Uncertain significance	rs886046149	GRCh38	Chromosome 1, 235380164: 235380164
41	TBCE	NM_003193.4(TBCE): c.100+15T> G	single nucleotide variant	Uncertain significance	rs886046149	GRCh37	Chromosome 1, 235543479: 235543479
42	TBCE	NM_003193.4(TBCE): c.1125C> T (p.Pro375=)	single nucleotide variant	Uncertain significance	rs762683460	GRCh38	Chromosome 1, 235438777: 235438777
43	TBCE	NM_003193.4(TBCE): c.1125C> T (p.Pro375=)	single nucleotide variant	Uncertain significance	rs762683460	GRCh37	Chromosome 1, 235602092: 235602092
44	TBCE	NM_003193.4(TBCE): c.1226A> G (p.Glu409Gly)	single nucleotide variant	Likely benign	rs16832619	GRCh38	Chromosome 1, 235438878: 235438878
45	TBCE	NM_003193.4(TBCE): c.1226A> G (p.Glu409Gly)	single nucleotide variant	Likely benign	rs16832619	GRCh37	Chromosome 1, 235602193: 235602193
46	TBCE	NM_003193.4(TBCE): c.1397C> T (p.Pro466Leu)	single nucleotide variant	Uncertain significance	rs114972093	GRCh38	Chromosome 1, 235442909: 235442909
47	TBCE	NM_003193.4(TBCE): c.1397C> T (p.Pro466Leu)	single nucleotide variant	Uncertain significance	rs114972093	GRCh37	Chromosome 1, 235606224: 235606224
48	TBCE	NM_003193.4(TBCE): c.1492-14C> T	single nucleotide variant	Uncertain significance	rs147400126	GRCh38	Chromosome 1, 235448656: 235448656
49	TBCE	NM_003193.4(TBCE): c.1492-14C> T	single nucleotide variant	Uncertain significance	rs147400126	GRCh37	Chromosome 1, 235611971: 235611971
50	TBCE	NM_003193.4(TBCE): c.1577G> A (p.Arg526Gln)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs140662460	GRCh38	Chromosome 1, 235448755: 235448755

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Expression for Hypoparathyroidism-Retardation-Dysmorphism Syndrome

Search GEO for disease gene expression data for Hypoparathyroidism-Retardation-Dysmorphism Syndrome.

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Pathways for Hypoparathyroidism-Retardation-Dysmorphism Syndrome

Pathways related to Hypoparathyroidism-Retardation-Dysmorphism Syndrome according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Metabolism of proteins ⁶⁶ Show member pathways Post-translational protein modification ⁶⁶	13.23	ARL2 B3GALNT2 BCS1L TBCA TBCB TBCC
2	Chaperonin-mediated protein folding ⁶⁶ Show member pathways Association of TriC/CCT with target proteins during biosynthesis ⁶⁶ Protein folding ⁶⁶	11.89	ARL2 TBCA TBCB TBCC TBCD TBCE
3	Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding ⁶⁶ Show member pathways Folding of actin by CCT/TriC ⁶⁶ Formation of tubulin folding intermediates by CCT/TriC ⁶⁶ Post-chaperonin tubulin folding pathway ⁶⁶ Prefoldin mediated transfer of substrate to CCT/TriC ⁶⁶	11.25	ARL2 TBCA TBCB TBCC TBCD TBCE

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GO Terms for Hypoparathyroidism-Retardation-Dysmorphism Syndrome

Cellular components related to Hypoparathyroidism-Retardation-Dysmorphism Syndrome according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	cytoskeleton	GO:0005856	9.5	ARL2 TBCA TBCB TBCC TBCD TBCE
2	microtubule cytoskeleton	GO:0015630	9.33	TBCA TBCB TUBA1B
3	lateral plasma membrane	GO:0016328	9.26	ARL2 TBCD
4	microtubule	GO:0005874	9.1	TBCA TBCB TBCC TBCD TBCE TUBA1B

Biological processes related to Hypoparathyroidism-Retardation-Dysmorphism Syndrome according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	protein folding	GO:0006457	9.46	TBCA TBCC TBCD TBCE
2	microtubule cytoskeleton organization	GO:0000226	9.43	TBCD TBCE TUBA1B
3	bicellular tight junction assembly	GO:0070830	9.32	ARL2 TBCD
4	tubulin complex assembly	GO:0007021	9.26	ARL2 TBCA TBCC TBCD
5	post-chaperonin tubulin folding pathway	GO:0007023	8.92	TBCA TBCC TBCD TBCE

Molecular functions related to Hypoparathyroidism-Retardation-Dysmorphism Syndrome according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	GTPase activity	GO:0003924	9.33	ARL2 TBCC TUBA1B
2	beta-tubulin binding	GO:0048487	8.96	TBCA TBCD
3	chaperone binding	GO:0051087	8.92	TBCA TBCC TBCD TBCE

Sources

Sources for Hypoparathyroidism-Retardation-Dysmorphism Syndrome

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

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¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia