MCID: ULN024
MIFTS: 19

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 57 6
Ulnar/fibula Ray Defect-Brachydactyly Syndrome 59
Morava-Mehes Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
ulnar/fibula ray defect-brachydactyly syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
ulnar/fibular ray defect and brachydactyly:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 608571
Orphanet 59 ORPHA52056
UMLS via Orphanet 74 C1837830
ICD10 via Orphanet 34 Q73.8
MedGen 42 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). Affiliated tissues include bone, and related phenotypes are malar flattening and hemangioma

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 10.2

Symptoms & Phenotypes for Ulnar/fibular Ray Defect and Brachydactyly

Symptoms via clinical synopsis from OMIM:

57
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

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

59 32 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 59 32 frequent (33%) Frequent (79-30%) HP:0000272
2 hemangioma 59 32 occasional (7.5%) Occasional (29-5%) HP:0001028
3 brachydactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001156
4 atrial septal defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0001631
5 talipes equinovarus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001762
6 short foot 59 32 occasional (7.5%) Occasional (29-5%) HP:0001773
7 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
8 postaxial oligodactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0006210
9 aplasia/hypoplasia of the fibula 59 32 frequent (33%) Frequent (79-30%) HP:0006492
10 aplasia/hypoplasia of the ulna 59 32 frequent (33%) Frequent (79-30%) HP:0006495
11 short 5th finger 59 32 frequent (33%) Frequent (79-30%) HP:0009237
12 growth delay 59 Very frequent (99-80%)
13 round face 32 HP:0000311
14 toe syndactyly 32 HP:0001770
15 bilateral talipes equinovarus 32 HP:0001776
16 frontal bossing 32 HP:0002007
17 fibular hypoplasia 32 HP:0003038
18 unilateral ulnar hypoplasia 32 HP:0005036
19 prominent forehead 32 HP:0011220
20 midface retrusion 32 HP:0011800
21 lower limb asymmetry 32 HP:0100559

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

MalaCards organs/tissues related to Ulnar/fibular Ray Defect and Brachydactyly:

41
Bone

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
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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