MCID: THM019
MIFTS: 17

Thumbs, Stiff, with Brachydactyly Type A1 and Developmental Delay

Categories: Bone diseases, Fetal diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Thumbs, Stiff, with Brachydactyly Type A1 and Developmental...

MalaCards integrated aliases for Thumbs, Stiff, with Brachydactyly Type A1 and Developmental Delay:

Name: Thumbs, Stiff, with Brachydactyly Type A1 and Developmental Delay 56 52
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome 58
Thumb Stiff Brachydactyly Mental Retardation 52
Piussan Lenaerts Mathieu Syndrome 71
Piussan-Lenaerts-Mathieu Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
thumb stiffness-brachydactyly-intellectual disability syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; Age of death: any age;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
thumbs, stiff, with brachydactyly type a1 and developmental delay:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 188201
MESH via Orphanet 44 C537511
ICD10 via Orphanet 33 Q87.2
UMLS via Orphanet 72 C2931515
Orphanet 58 ORPHA1078
MedGen 41 C1861166
UMLS 71 C2931515

Summaries for Thumbs, Stiff, with Brachydactyly Type A1 and Developmental...

MalaCards based summary : Thumbs, Stiff, with Brachydactyly Type A1 and Developmental Delay, also known as thumb stiffness-brachydactyly-intellectual disability syndrome, is related to piussan lenaerts mathieu syndrome. Affiliated tissues include bone, and related phenotypes are intellectual disability and joint stiffness

More information from OMIM: 188201

Related Diseases for Thumbs, Stiff, with Brachydactyly Type A1 and Developmental...

Diseases related to Thumbs, Stiff, with Brachydactyly Type A1 and Developmental Delay via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 piussan lenaerts mathieu syndrome 12.9

Symptoms & Phenotypes for Thumbs, Stiff, with Brachydactyly Type A1 and Developmental...

Human phenotypes related to Thumbs, Stiff, with Brachydactyly Type A1 and Developmental Delay:

58 31 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 joint stiffness 58 31 hallmark (90%) Very frequent (99-80%) HP:0001387
3 abnormal thumb morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0001172
4 abnormality of the metacarpal bones 58 31 hallmark (90%) Very frequent (99-80%) HP:0001163
5 type a brachydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0009370
6 obesity 58 31 frequent (33%) Frequent (79-30%) HP:0001513
7 global developmental delay 31 HP:0001263
8 type a1 brachydactyly 31 HP:0009371

Symptoms via clinical synopsis from OMIM:

56
Neuro:
mental retardation

Limbs:
brachydactyly type a1
stiff thumbs

Clinical features from OMIM:

188201

Drugs & Therapeutics for Thumbs, Stiff, with Brachydactyly Type A1 and Developmental...

Search Clinical Trials , NIH Clinical Center for Thumbs, Stiff, with Brachydactyly Type A1 and Developmental Delay

Genetic Tests for Thumbs, Stiff, with Brachydactyly Type A1 and Developmental...

Anatomical Context for Thumbs, Stiff, with Brachydactyly Type A1 and Developmental...

MalaCards organs/tissues related to Thumbs, Stiff, with Brachydactyly Type A1 and Developmental Delay:

40
Bone

Publications for Thumbs, Stiff, with Brachydactyly Type A1 and Developmental...

Articles related to Thumbs, Stiff, with Brachydactyly Type A1 and Developmental Delay:

# Title Authors PMID Year
1
Bilateral ankylosed thumbs and mental retardation. 56
2363441 1990
2
[Regular dominance of thumb ankylosis with mental retardation transmitted over 3 generations]. 56
6631421 1983

Variations for Thumbs, Stiff, with Brachydactyly Type A1 and Developmental...

Expression for Thumbs, Stiff, with Brachydactyly Type A1 and Developmental...

Search GEO for disease gene expression data for Thumbs, Stiff, with Brachydactyly Type A1 and Developmental Delay.

Pathways for Thumbs, Stiff, with Brachydactyly Type A1 and Developmental...

GO Terms for Thumbs, Stiff, with Brachydactyly Type A1 and Developmental...

Sources for Thumbs, Stiff, with Brachydactyly Type A1 and Developmental...

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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