MCID: THM019
MIFTS: 15

Thumbs, Stiff, with Brachydactyly Type A1 and Developmental Delay

Categories: Bone diseases, Fetal 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 58
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome 60
Piussan Lenaerts Mathieu Syndrome 74
Piussan-Lenaerts-Mathieu Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
thumb stiffness-brachydactyly-intellectual disability syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; Age of death: any age;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
thumbs, stiff, with brachydactyly type a1 and developmental delay:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 188201
MESH via Orphanet 46 C537511
ICD10 via Orphanet 35 Q87.2
UMLS via Orphanet 75 C2931515
Orphanet 60 ORPHA1078
MedGen 43 C1861166
UMLS 74 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 and thumb stiff brachydactyly mental retardation. Related phenotypes are intellectual disability and joint stiffness

Description 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 12.7
2 thumb stiff brachydactyly mental retardation 11.7

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

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

60 33 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
2 joint stiffness 60 33 hallmark (90%) Very frequent (99-80%) HP:0001387
3 abnormal thumb morphology 60 33 hallmark (90%) Very frequent (99-80%) HP:0001172
4 abnormality of the metacarpal bones 60 33 hallmark (90%) Very frequent (99-80%) HP:0001163
5 type a brachydactyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0009370
6 obesity 60 33 frequent (33%) Frequent (79-30%) HP:0001513
7 global developmental delay 33 HP:0001263
8 type a1 brachydactyly 33 HP:0009371

Symptoms via clinical synopsis from OMIM:

58
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...

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

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
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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