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HRDS
MCID: HYP134
MIFTS: 45

Hypoparathyroidism-Retardation-Dysmorphism Syndrome (HRDS)

Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Hypoparathyroidism-Retardation-Dysmorphism Syndrome

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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
Orphanet: 59  
Rare neurological diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


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Summaries for Hypoparathyroidism-Retardation-Dysmorphism Syndrome

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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 kenny-caffey 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

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.

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.

Wikipedia : 76 Sanjad-Sakati syndrome is a rare autosomal recessive genetic condition seen in offspring of Middle... more...

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Related Diseases for Hypoparathyroidism-Retardation-Dysmorphism Syndrome

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

(show all 25)
# Related Disease Score Top Affiliating Genes
1 hypoparathyroidism 30.7 FAM111A PTH TBCE
2 kenny-caffey syndrome 30.4 ENSG00000285053 FAM111A TBCE TUBA1B
3 sick sinus syndrome 11.8
4 hypoparathyroidism-intellectual disability-dysmorphism syndrome 11.8
5 sick sinus syndrome 2 11.6
6 stiff skin syndrome 11.4
7 sick sinus syndrome 1 11.2
8 sinus node disease and myopia 11.0
9 sick sinus syndrome 3 11.0
10 chronic atrial and intestinal dysrhythmia 11.0
11 subclavian steal syndrome 11.0
12 acrocephalopolysyndactyly type iii 11.0
13 visceral myopathy 10.3
14 kenny-caffey syndrome, type 1 10.3
15 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 10.3
16 status epilepticus 10.3
17 macrocytic anemia 10.3
18 superior mesenteric artery syndrome 10.3
19 myopathy 10.3
20 thyroiditis 10.3
21 chronic intestinal pseudoobstruction 10.3
22 heavy chain disease 10.1
23 popliteal pterygium syndrome 10.1
24 fibromyalgia 10.1
25 encephalopathy, progressive, with amyotrophy and optic atrophy 10.0 ENSG00000285053 TBCE

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



Diseases related to Hypoparathyroidism-Retardation-Dysmorphism Syndrome
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Symptoms & Phenotypes for Hypoparathyroidism-Retardation-Dysmorphism Syndrome

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Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears
posteriorly rotated ears

Head And Neck Head:
microcephaly

Genitourinary Internal Genitalia Male:
cryptorchidism

Neurologic Central Nervous System:
tetany
hypocalcemic seizures
delayed myelination
mental retardation
thin corpus callosum
more
Head And Neck Mouth:
bifid uvula
thin lips

Immunology:
recurrent bacterial infections
normal cell mediated immunity

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

Genitourinary External Genitalia Male:
micropenis

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 hyperphosphatemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002905
32 severe intrauterine growth retardation 59 32 hallmark (90%) Very frequent (99-80%) HP:0008846
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 micropenis 32 HP:0000054
44 hypoplasia of the corpus callosum 32 HP:0002079
45 recurrent bacterial infections 32 HP:0002718
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
Sources

Drugs & Therapeutics for Hypoparathyroidism-Retardation-Dysmorphism Syndrome

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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

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Genetic tests related to Hypoparathyroidism-Retardation-Dysmorphism Syndrome:

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

Anatomical Context for Hypoparathyroidism-Retardation-Dysmorphism Syndrome

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

41
Eye, Pituitary, Bone, Skin, Thyroid
Sources

Publications for Hypoparathyroidism-Retardation-Dysmorphism Syndrome

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Articles related to Hypoparathyroidism-Retardation-Dysmorphism Syndrome:

# Title Authors Year
1
A case of severe TBCE-negative hypoparathyroidism-retardation-dysmorphism syndrome: Case report and literature review. ( 30055029 )
2018
2
Clinical features and tubulin folding cofactor E gene analysis in Iranian patients with Sanjad-Sakati syndrome. ( 30080992 )
2018
3
Hypoparathyroidism-retardation-dysmorphism syndrome. ( 24339556 )
2013
4
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 )
2009
5
Hypoparathyroidism-retardation-dysmorphism syndrome in a girl: A new variant not caused by a TBCE mutation--clinical report and review. ( 16470743 )
2006
Sources

Variations for Hypoparathyroidism-Retardation-Dysmorphism Syndrome

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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/Likely pathogenic rs767004810 GRCh37 Chromosome 1, 235564872: 235564883
2 TBCE NM_003193.4(TBCE): c.155_166delGCCACGAAGGGA (p.Ser52_Gly55del) deletion Pathogenic/Likely 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
Sources

Expression for Hypoparathyroidism-Retardation-Dysmorphism Syndrome

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

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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
 13.23 ARL2 B3GALNT2 BCS1L TBCA TBCB TBCC
2
Chaperonin-mediated protein folding 66
Show member pathways
 11.89 ARL2 TBCA TBCB TBCC TBCD TBCE
3
Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding 66
Show member pathways
 11.25 ARL2 TBCA TBCB TBCC TBCD TBCE
Sources

GO Terms for Hypoparathyroidism-Retardation-Dysmorphism Syndrome

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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 9.56 ARL2 ENSG00000285053 TBCA TBCB TBCC TBCD
2 microtubule cytoskeleton GO:0015630 9.33 TBCA TBCB TUBA1B
3 lateral plasma membrane GO:0016328 9.26 ARL2 TBCD
4 microtubule GO:0005874 9.17 ENSG00000285053 TBCA TBCB TBCC TBCD TBCE

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 9.55 ENSG00000285053 TBCA TBCC TBCD TBCE
2 microtubule cytoskeleton organization GO:0000226 9.43 TBCD TBCE TUBA1B
3 mitotic spindle organization GO:0007052 9.37 ENSG00000285053 TBCE
4 bicellular tight junction assembly GO:0070830 9.32 ARL2 TBCD
5 tubulin complex assembly GO:0007021 9.26 ARL2 TBCA TBCC TBCD
6 post-chaperonin tubulin folding pathway GO:0007023 9.02 ENSG00000285053 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 chaperone binding GO:0051087 9.02 ENSG00000285053 TBCA TBCC TBCD TBCE
3 beta-tubulin binding GO:0048487 8.96 TBCA TBCD
Sources

Sources for Hypoparathyroidism-Retardation-Dysmorphism Syndrome

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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