MCID: ULN024
MIFTS: 17

Ulnar/fibular Ray Defect and Brachydactyly

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Ulnar/fibular Ray Defect and Brachydactyly

MalaCards integrated aliases for Ulnar/fibular Ray Defect and Brachydactyly:

Name: Ulnar/fibular Ray Defect and Brachydactyly 58 6
Ulnar/fibula Ray Defect-Brachydactyly Syndrome 60
Morava-Mehes Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
ulnar/fibula ray defect-brachydactyly syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
ulnar/fibular ray defect and brachydactyly:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 608571
ICD10 via Orphanet 35 Q73.8
UMLS via Orphanet 75 C1837830
Orphanet 60 ORPHA52056
MedGen 43 C1837830

Summaries for Ulnar/fibular Ray Defect and Brachydactyly

MalaCards based summary : Ulnar/fibular Ray Defect and Brachydactyly, also known as ulnar/fibula ray defect-brachydactyly syndrome, is related to brachydactyly. An important gene associated with Ulnar/fibular Ray Defect and Brachydactyly is RP1L1 (RP1 Like 1). Related phenotypes are malar flattening and short stature

Description from OMIM: 608571

Related Diseases for Ulnar/fibular Ray Defect and Brachydactyly

Diseases related to Ulnar/fibular Ray Defect and Brachydactyly via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 brachydactyly 10.3

Symptoms & Phenotypes for Ulnar/fibular Ray Defect and Brachydactyly

Human phenotypes related to Ulnar/fibular Ray Defect and Brachydactyly:

60 33 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 60 33 frequent (33%) Frequent (79-30%) HP:0000272
2 short stature 60 33 frequent (33%) Frequent (79-30%) HP:0004322
3 brachydactyly 60 33 frequent (33%) Frequent (79-30%) HP:0001156
4 aplasia/hypoplasia of the ulna 60 33 frequent (33%) Frequent (79-30%) HP:0006495
5 short 5th finger 60 33 frequent (33%) Frequent (79-30%) HP:0009237
6 aplasia/hypoplasia of the fibula 60 33 frequent (33%) Frequent (79-30%) HP:0006492
7 short foot 60 33 occasional (7.5%) Occasional (29-5%) HP:0001773
8 atrial septal defect 60 33 occasional (7.5%) Occasional (29-5%) HP:0001631
9 talipes equinovarus 60 33 occasional (7.5%) Occasional (29-5%) HP:0001762
10 hemangioma 60 33 occasional (7.5%) Occasional (29-5%) HP:0001028
11 postaxial oligodactyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0006210
12 frontal bossing 33 HP:0002007
13 prominent forehead 33 HP:0011220
14 growth delay 60 Very frequent (99-80%)
15 round face 33 HP:0000311
16 midface retrusion 33 HP:0011800
17 toe syndactyly 33 HP:0001770
18 lower limb asymmetry 33 HP:0100559
19 bilateral talipes equinovarus 33 HP:0001776
20 fibular hypoplasia 33 HP:0003038
21 unilateral ulnar hypoplasia 33 HP:0005036

Symptoms via clinical synopsis from OMIM:

58
Growth Height:
short stature

Cardiovascular Heart:
atrial septal defect

Skeletal Limbs:
fibular hypoplasia
unilateral ulnar hypoplasia
leg length discrepancy

Chest Breasts:
normal breast

Head And Neck Face:
prominent forehead
round face
midface hypoplasia

Skeletal Hands:
brachydactyly
postaxial oligodactyly (absent 4-5 fingers)

Skin Nails Hair Skin:
normal sweating
hemangioma (neck and forehead)

Skeletal Feet:
bilateral clubfeet
syndactyly (4-5 toes)

Clinical features from OMIM:

608571

Drugs & Therapeutics for Ulnar/fibular Ray Defect and Brachydactyly

Search Clinical Trials , NIH Clinical Center for Ulnar/fibular Ray Defect and Brachydactyly

Genetic Tests for Ulnar/fibular Ray Defect and Brachydactyly

Anatomical Context for Ulnar/fibular Ray Defect and Brachydactyly

Publications for Ulnar/fibular Ray Defect and Brachydactyly

Articles related to Ulnar/fibular Ray Defect and Brachydactyly:

# Title Authors Year
1
Ulnar/fibular ray defect and brachydactyly in a family: a possible new autosomal dominant syndrome. ( 14564152 )
2003

Variations for Ulnar/fibular Ray Defect and Brachydactyly

ClinVar genetic disease variations for Ulnar/fibular Ray Defect and Brachydactyly:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RP1L1 NM_178857.5(RP1L1): c.328C> T (p.Pro110Ser) single nucleotide variant Likely pathogenic rs773440242 GRCh37 Chromosome 8, 10480384: 10480384
2 RP1L1 NM_178857.5(RP1L1): c.328C> T (p.Pro110Ser) single nucleotide variant Likely pathogenic rs773440242 GRCh38 Chromosome 8, 10622874: 10622874

Expression for Ulnar/fibular Ray Defect and Brachydactyly

Search GEO for disease gene expression data for Ulnar/fibular Ray Defect and Brachydactyly.

Pathways for Ulnar/fibular Ray Defect and Brachydactyly

GO Terms for Ulnar/fibular Ray Defect and Brachydactyly

Sources for Ulnar/fibular Ray Defect and Brachydactyly

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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