MCID: MSC129
MIFTS: 22

Muscular Pseudohypertrophy-Hypothyroidism Syndrome

Categories: Endocrine diseases, Immune diseases, Muscle diseases, Rare diseases

Aliases & Classifications for Muscular Pseudohypertrophy-Hypothyroidism Syndrome

MalaCards integrated aliases for Muscular Pseudohypertrophy-Hypothyroidism Syndrome:

Name: Muscular Pseudohypertrophy-Hypothyroidism Syndrome 58
B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations 71
Kocher-Debre-Semelaigne Syndrome 58
Hoffmann Syndrome 58

Characteristics:

Orphanet epidemiological data:

58

Classifications:

Orphanet: 58  
Rare endocrine diseases


External Ids:

ICD10 via Orphanet 33 E03.1
UMLS via Orphanet 72 C0270958
Orphanet 58 ORPHA2349
UMLS 71 C1836437

Summaries for Muscular Pseudohypertrophy-Hypothyroidism Syndrome

MalaCards based summary : Muscular Pseudohypertrophy-Hypothyroidism Syndrome, also known as b-cell immunodeficiency, distal limb anomalies, and urogenital malformations, is related to kocher-debre-semelaigne syndrome and trigonocephaly-broad thumbs syndrome. Affiliated tissues include b cells, thyroid and skeletal muscle, and related phenotypes are neurological speech impairment and sleep disturbance

Related Diseases for Muscular Pseudohypertrophy-Hypothyroidism Syndrome

Diseases related to Muscular Pseudohypertrophy-Hypothyroidism Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)
# Related Disease Score Top Affiliating Genes
1 kocher-debre-semelaigne syndrome 13.2
2 trigonocephaly-broad thumbs syndrome 11.4
3 hypothyroidism 11.1
4 myopathy 10.9
5 congenital hypothyroidism 10.7
6 hemopericardium 10.7
7 pericardial effusion 10.7
8 atrial standstill 1 10.6
9 macroglossia 10.6
10 arrhythmogenic right ventricular cardiomyopathy 10.6
11 myxedema 9.9
12 constipation 9.9
13 nemaline myopathy 9.9
14 primary ciliary dyskinesia 9.9

Graphical network of the top 20 diseases related to Muscular Pseudohypertrophy-Hypothyroidism Syndrome:



Diseases related to Muscular Pseudohypertrophy-Hypothyroidism Syndrome

Symptoms & Phenotypes for Muscular Pseudohypertrophy-Hypothyroidism Syndrome

Human phenotypes related to Muscular Pseudohypertrophy-Hypothyroidism Syndrome:

58 31 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 neurological speech impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0002167
2 sleep disturbance 58 31 hallmark (90%) Very frequent (99-80%) HP:0002360
3 gait disturbance 58 31 hallmark (90%) Very frequent (99-80%) HP:0001288
4 constipation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002019
5 hypothyroidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000821
6 muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0001324
7 macroglossia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000158
8 coarse facial features 58 31 hallmark (90%) Very frequent (99-80%) HP:0000280
9 umbilical hernia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001537
10 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
11 cognitive impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0100543
12 myopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0003198
13 myalgia 58 31 hallmark (90%) Very frequent (99-80%) HP:0003326
14 jaundice 58 31 hallmark (90%) Very frequent (99-80%) HP:0000952
15 skeletal muscle hypertrophy 58 Very frequent (99-80%)

Drugs & Therapeutics for Muscular Pseudohypertrophy-Hypothyroidism Syndrome

Search Clinical Trials , NIH Clinical Center for Muscular Pseudohypertrophy-Hypothyroidism Syndrome

Genetic Tests for Muscular Pseudohypertrophy-Hypothyroidism Syndrome

Anatomical Context for Muscular Pseudohypertrophy-Hypothyroidism Syndrome

MalaCards organs/tissues related to Muscular Pseudohypertrophy-Hypothyroidism Syndrome:

40
B Cells, Thyroid, Skeletal Muscle

Publications for Muscular Pseudohypertrophy-Hypothyroidism Syndrome

Articles related to Muscular Pseudohypertrophy-Hypothyroidism Syndrome:

(show all 32)
# Title Authors PMID Year
1
A rare complication of untreated congenital hypothyroidism in a Sudanese child. 61
30799903 2018
2
Lingual thyroid presenting as Kocher-Debre-Semelaigne syndrome. 61
27535889 2016
3
Association of Van Wyk Grumbach and Debre Semelaigne Syndromes with Severe Hypothyroidism. 61
26165912 2015
4
Kocher-Debre-Semelaigne syndrome. 61
25624942 2014
5
Kocher debre semelaigne syndrome: a rare case report with orofacial manifestations. 61
23599883 2013
6
Kocher-Debre-Semelaigne syndrome with arrhythmogenic right ventricular cardiomyopathy: A hitherto unrecognized association. 61
23226660 2012
7
Kocher-debre-semelaigne syndrome: hypothyroid muscular pseudohypertrophy-a rare report of two cases. 61
22934196 2012
8
Kocher Debre Semelaigne syndrome and associated orofacial aspects: report of a case. 61
21467826 2011
9
Congenital hypopituitarism due to POU1F1 gene mutation. 61
21316014 2011
10
Kocher-Debre-Semelaigne syndrome. 61
22802324 2010
11
[Pseudohypertrophic myopathy as a manifestation of hypothyroidism (Kocher-Debre-Semelaigne syndrome)]. 61
18509833 2008
12
Case report. Kocher-Debre-Semelaigne syndrome with pericardial effusion. 61
17785889 2007
13
Kocher-Debre-Semelaigne syndrome: a case report. 61
17402524 2006
14
Kocher Debre Semelaigne syndrome--a case report and review of literature. 61
15868877 2004
15
Kocher-Debre-Semelaigne syndrome: hypothyroidism with muscle pseudohypertrophy. 61
14510090 2003
16
Kocher Debre Semelaigne syndrome: regression of pesudohypertrophy of muscles on thyroxine. 61
11861255 2002
17
Clinical spectrum and follow-up study of congenital hypothyroidism at District Hospital in India. 61
8445686 1993
18
[Kocher-Debre-Semelaigne syndrome. Apropos of a case]. 61
2400195 1990
19
Kocher Debre Semelaigne syndrome mimicking primary muscle disease. 61
2361750 1990
20
Kocher-Debre-Semelaigne syndrome. 61
2630449 1989
21
Myopathies associated with hypothyroidism: a review based upon 13 cases. 61
3071995 1988
22
Kocher Debre Semelaigne syndrome in a neonate. 61
3248862 1988
23
Kocher Debre Semelaigne syndrome. 61
3679483 1987
24
Kocher Debre Semelaigne syndrome. 61
6480082 1984
25
Kocher Debre Semelaigne syndrome. 61
6747314 1984
26
Kocher-Debre-Semelaigne syndrome. 61
6862615 1983
27
Kocher Debre Semelaigne syndrome (case report). 61
511837 1979
28
The Kocher-Debre-Semelaigne syndrome. 61
881228 1977
29
The Kocher--Debre--Semelaigne syndrome: a case report. 61
977101 1976
30
Kocher-Debre-Semelaigne syndrome. A case report of a twin sister. 61
4655520 1972
31
The Kocher-Debre-Semelaigne syndrome (a case report). 61
5141879 1971
32
The Kocher-Debre-Semelaigne syndrome: hypothyroidism with muscular "hypertrophy". 61
5344766 1969

Variations for Muscular Pseudohypertrophy-Hypothyroidism Syndrome

Expression for Muscular Pseudohypertrophy-Hypothyroidism Syndrome

Search GEO for disease gene expression data for Muscular Pseudohypertrophy-Hypothyroidism Syndrome.

Pathways for Muscular Pseudohypertrophy-Hypothyroidism Syndrome

GO Terms for Muscular Pseudohypertrophy-Hypothyroidism Syndrome

Sources for Muscular Pseudohypertrophy-Hypothyroidism Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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