MCID: HYP134
MIFTS: 42

Hypoparathyroidism-Retardation-Dysmorphism Syndrome

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

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:



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.

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:



Diseases related to Hypoparathyroidism-Retardation-Dysmorphism Syndrome

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

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 29 TBCE

Anatomical Context for Hypoparathyroidism-Retardation-Dysmorphism Syndrome

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

41
Eye, Pituitary, Bone

Publications for Hypoparathyroidism-Retardation-Dysmorphism Syndrome

Articles related to Hypoparathyroidism-Retardation-Dysmorphism Syndrome:

# Title Authors Year
1
Hypoparathyroidism-retardation-dysmorphism syndrome. ( 24339556 )
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 )
2009
3
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.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

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 9.5 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 for Hypoparathyroidism-Retardation-Dysmorphism Syndrome

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
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44 MeSH
45 MESH via Orphanet
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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
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