HRDS
MCID: HYP134
MIFTS: 44

Hypoparathyroidism-Retardation-Dysmorphism Syndrome (HRDS)

Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Hypoparathyroidism-Retardation-Dysmorphism Syndrome

MalaCards integrated aliases for Hypoparathyroidism-Retardation-Dysmorphism Syndrome:

Name: Hypoparathyroidism-Retardation-Dysmorphism Syndrome 58 12 76 38 13 45 15 41 74
Sanjad-Sakati Syndrome 58 12 60 76 56
Hypoparathyroidism with Short Stature, Mental Retardation, and Seizures 58 76
Hypoparathyroidism Retardation Dysmorphism Syndrome 30 6
Hrd Syndrome 12 60
Hrds 58 76
Hypoparathyroidism, Congenital, Associated with Dysmorphism, Growth Retardation, and Developmental Delay 58
Hypoparathyroidism-Short Stature-Intellectual Disability-Seizures Syndrome 60
Hypoparathyroidism with Short Stature, Mental Retardation and Seizures 12
Hypoparathyroidism-Intellectual Disability-Dysmorphism Syndrome 60
Richardson-Kirk Syndrome 60
Sss 60

Characteristics:

Orphanet epidemiological data:

60
sanjad-sakati syndrome
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
allelic to kenny-caffey syndrome type 1


HPO:

33
hypoparathyroidism-retardation-dysmorphism syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Hypoparathyroidism-Retardation-Dysmorphism Syndrome

OMIM : 58 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 : 76 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 : 77 Sanjad-Sakati syndrome is a rare autosomal recessive genetic condition seen in offspring of Middle... more...

Related Diseases for Hypoparathyroidism-Retardation-Dysmorphism Syndrome

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



Diseases related to Hypoparathyroidism-Retardation-Dysmorphism Syndrome

Symptoms & Phenotypes for Hypoparathyroidism-Retardation-Dysmorphism Syndrome

Human phenotypes related to Hypoparathyroidism-Retardation-Dysmorphism Syndrome:

60 33 (show all 49)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
2 seizures 60 33 hallmark (90%) Very frequent (99-80%) HP:0001250
3 delayed skeletal maturation 60 33 hallmark (90%) Very frequent (99-80%) HP:0002750
4 depressed nasal bridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0005280
5 microcephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000252
6 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
7 long philtrum 60 33 hallmark (90%) Very frequent (99-80%) HP:0000343
8 micrognathia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000347
9 short foot 60 33 hallmark (90%) Very frequent (99-80%) HP:0001773
10 postnatal growth retardation 60 33 hallmark (90%) Very frequent (99-80%) HP:0008897
11 external ear malformation 60 33 hallmark (90%) Very frequent (99-80%) HP:0008572
12 deeply set eye 60 33 hallmark (90%) Very frequent (99-80%) HP:0000490
13 small hand 60 33 hallmark (90%) Very frequent (99-80%) HP:0200055
14 low-set, posteriorly rotated ears 60 33 hallmark (90%) Very frequent (99-80%) HP:0000368
15 hypocalcemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002901
16 high forehead 60 33 hallmark (90%) Very frequent (99-80%) HP:0000348
17 convex nasal ridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0000444
18 thin vermilion border 60 33 hallmark (90%) Very frequent (99-80%) HP:0000233
19 hyperphosphatemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002905
20 severe intrauterine growth retardation 60 33 hallmark (90%) Very frequent (99-80%) HP:0008846
21 congenital hypoparathyroidism 60 33 hallmark (90%) Very frequent (99-80%) HP:0008198
22 recurrent respiratory infections 60 33 frequent (33%) Frequent (79-30%) HP:0002205
23 abnormality of dental enamel 60 33 frequent (33%) Frequent (79-30%) HP:0000682
24 corneal opacity 60 33 occasional (7.5%) Occasional (29-5%) HP:0007957
25 myopathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0003198
26 cryptorchidism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000028
27 ventriculomegaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0002119
28 intestinal obstruction 60 33 occasional (7.5%) Occasional (29-5%) HP:0005214
29 cellular immunodeficiency 60 33 occasional (7.5%) Occasional (29-5%) HP:0005374
30 hypoplasia of penis 60 33 occasional (7.5%) Occasional (29-5%) HP:0008736
31 spinal canal stenosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0003416
32 aplasia/hypoplasia affecting the eye 60 33 occasional (7.5%) Occasional (29-5%) HP:0008056
33 astigmatism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000483
34 patchy osteosclerosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0005686
35 low-set ears 33 HP:0000369
36 frontal bossing 33 HP:0002007
37 abnormality of the dentition 60 Frequent (79-30%)
38 prominent forehead 33 HP:0011220
39 short palm 33 HP:0004279
40 hypoparathyroidism 60 Very frequent (99-80%)
41 tetany 33 HP:0001281
42 bifid uvula 33 HP:0000193
43 micropenis 33 HP:0000054
44 hypoplasia of the corpus callosum 33 HP:0002079
45 recurrent bacterial infections 33 HP:0002718
46 posteriorly rotated ears 33 HP:0000358
47 growth hormone deficiency 33 HP:0000824
48 hypocalcemic seizures 33 HP:0002199
49 delayed myelination 33 HP:0012448

Symptoms via clinical synopsis from OMIM:

58
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

UMLS symptoms related to Hypoparathyroidism-Retardation-Dysmorphism Syndrome:


seizures

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced shRNA abundance in FBW7 KO line GR00369-A 8.8 B3GALNT2 TBCB TUBA1B

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

Genetic Tests for Hypoparathyroidism-Retardation-Dysmorphism Syndrome

Genetic tests related to Hypoparathyroidism-Retardation-Dysmorphism Syndrome:

# Genetic test Affiliating Genes
1 Hypoparathyroidism Retardation Dysmorphism Syndrome 30 TBCE

Anatomical Context for Hypoparathyroidism-Retardation-Dysmorphism Syndrome

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

42
Eye, Pituitary, Bone

Publications for Hypoparathyroidism-Retardation-Dysmorphism Syndrome

Articles related to Hypoparathyroidism-Retardation-Dysmorphism Syndrome:

# Title Authors Year
1
Additional Tunisian patients with Sanjad-Sakati syndrome: A review toward a consensus on diagnostic criteria. ( 30638765 )
2019
2
A case of severe TBCE-negative hypoparathyroidism-retardation-dysmorphism syndrome: Case report and literature review. ( 30055029 )
2018
3
Clinical features and tubulin folding cofactor E gene analysis in Iranian patients with Sanjad-Sakati syndrome. ( 30080992 )
2018
4
Hypoparathyroidism-retardation-dysmorphism syndrome. ( 24339556 )
2013
5
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
6
Hypoparathyroidism-retardation-dysmorphism syndrome in a girl: A new variant not caused by a TBCE mutation--clinical report and review. ( 16470743 )
2006

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.847A> T (p.Ile283Phe) single nucleotide variant Uncertain significance rs200022583 GRCh37 Chromosome 1, 235599714: 235599714
2 TBCE NM_003193.4(TBCE): c.847A> T (p.Ile283Phe) single nucleotide variant Uncertain significance rs200022583 GRCh38 Chromosome 1, 235436399: 235436399
3 TBCE NM_003193.4(TBCE): c.155_166delGCCACGAAGGGA (p.Ser52_Gly55del) deletion Pathogenic/Likely pathogenic rs767004810 GRCh37 Chromosome 1, 235564872: 235564883
4 TBCE NM_003193.4(TBCE): c.155_166delGCCACGAAGGGA (p.Ser52_Gly55del) deletion Pathogenic/Likely pathogenic rs767004810 GRCh38 Chromosome 1, 235401557: 235401568
5 TBCE TBCE, 2-BP DEL, 66AG deletion Pathogenic
6 TBCE NM_001079515.2(TBCE): c.1113T> A (p.Cys371Ter) single nucleotide variant Pathogenic rs121908384 GRCh37 Chromosome 1, 235600786: 235600786
7 TBCE NM_001079515.2(TBCE): c.1113T> A (p.Cys371Ter) single nucleotide variant Pathogenic rs121908384 GRCh38 Chromosome 1, 235437471: 235437471
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 rs10524346 GRCh38 Chromosome 1, 235380213: 235380214
21 TBCE NM_003193.4(TBCE): c.100+64_100+65dupGT duplication Uncertain significance rs10524346 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 Conflicting interpretations of pathogenicity rs114972093 GRCh38 Chromosome 1, 235442909: 235442909
47 TBCE NM_003193.4(TBCE): c.1397C> T (p.Pro466Leu) single nucleotide variant Conflicting interpretations of pathogenicity 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

Expression for Hypoparathyroidism-Retardation-Dysmorphism Syndrome

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

Pathways for Hypoparathyroidism-Retardation-Dysmorphism Syndrome

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 9.56 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 for Hypoparathyroidism-Retardation-Dysmorphism Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
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39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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