Brachymorphism-Onychodysplasia-Dysphalangism Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: BRC091 MIFTS: 26	Brachymorphism-Onychodysplasia-Dysphalangism Syndrome Categories: Bone diseases, Fetal diseases, Rare diseases
Genes Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Sources

Aliases & Classifications for Brachymorphism-Onychodysplasia-Dysphalangism Syndrome

MalaCards integrated aliases for Brachymorphism-Onychodysplasia-Dysphalangism Syndrome:

Name: Brachymorphism-Onychodysplasia-Dysphalangism Syndrome ⁵⁸ ⁵⁴ ⁶⁰ ⁷⁴

Bod Syndrome ⁵⁸ ⁵⁴ ⁶⁰

Brachymorphism Onychodysplasia Dysphalangism Syndrome ⁵⁴

Senior Syndrome ⁶⁰

Characteristics:

Orphanet epidemiological data:

⁶⁰

brachymorphism-onychodysplasia-dysphalangism syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

⁵⁸

Inheritance:
autosomal dominant

HPO:

³³

brachymorphism-onychodysplasia-dysphalangism syndrome:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases
Anatomical: Bone diseases

See all MalaCards categories (disease lists)

ICD10: ³⁵

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other specified congenital malformation syndromes affecting multiple systems

Congenital malformation syndromes predominantly associated with short stature

Orphanet: ⁶⁰

Rare bone diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁸ 113477

MESH via Orphanet ⁴⁶ C536242

ICD10 via Orphanet ³⁵ Q87.1

UMLS via Orphanet ⁷⁵ C1862082

Orphanet ⁶⁰ ORPHA1292

MedGen ⁴³ C1862082

UMLS ⁷⁴ C1862082

Sources

Summaries for Brachymorphism-Onychodysplasia-Dysphalangism Syndrome

NIH Rare Diseases : ⁵⁴ BOD syndrome is a genetic condition characterized by underdeveloped �??pinky�?� toenails or fingernails, normal intellect to mild intellectual disability, distinct facial features, and short stature. The cause of the condition is not known. BOD syndrome is thought to be inherited in an autosomal dominant fashion, however in many cases the condition occurs for the first time in a family due to a new mutation. Signs and symptoms of BOD syndrome are similar to, albeit milder than that of, Coffin-Siris syndrome. The relationship between these syndromes is presently unknown.

MalaCards based summary : Brachymorphism-Onychodysplasia-Dysphalangism Syndrome, also known as bod syndrome, is related to senior-loken syndrome 1 and coffin-siris syndrome 1. An important gene associated with Brachymorphism-Onychodysplasia-Dysphalangism Syndrome is ACTL6A (Actin Like 6A). Affiliated tissues include lung and bone, and related phenotypes are delayed skeletal maturation and wide nasal bridge

Description from OMIM: 113477

Sources

Related Diseases for Brachymorphism-Onychodysplasia-Dysphalangism Syndrome

Diseases related to Brachymorphism-Onychodysplasia-Dysphalangism Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score
1	senior-loken syndrome 1	11.4
2	coffin-siris syndrome 1	10.6
3	microcephaly	10.6
4	retinitis pigmentosa	9.8
5	choroideremia	9.8
6	retinitis pigmentosa-deafness syndrome	9.8
7	leber congenital amaurosis 4	9.8
8	usher syndrome	9.8
9	neuronal ceroid lipofuscinosis	9.8
10	retinitis	9.8

Graphical network of the top 20 diseases related to Brachymorphism-Onychodysplasia-Dysphalangism Syndrome:

Sources

Symptoms & Phenotypes for Brachymorphism-Onychodysplasia-Dysphalangism Syndrome

Human phenotypes related to Brachymorphism-Onychodysplasia-Dysphalangism Syndrome:

⁶⁰ ³³ (show all 45)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	delayed skeletal maturation ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0002750
2	wide nasal bridge ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0000431
3	microcephaly ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0000252
4	short stature ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0004322
5	long philtrum ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0000343
6	hypoplastic toenails ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0001800
7	brachydactyly ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0001156
8	fingernail dysplasia ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0100798
9	hypoplastic fifth fingernail ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0008398
10	toenail dysplasia ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0100797
11	absent toenail ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0001802
12	absent fingernail ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0001817
13	short distal phalanx of toe ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0001857
14	malar flattening ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000272
15	frontal bossing ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0002007
16	strabismus ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000486
17	epicanthus ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000286
18	biparietal narrowing ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0004422
19	intrauterine growth retardation ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0001511
20	wide mouth ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000154
21	pointed chin ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000307
22	high forehead ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000348
23	triangular face ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000325
24	prominent nose ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000448
25	inguinal hernia ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000023
26	coarse facial features ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000280
27	umbilical hernia ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0001537
28	thick eyebrow ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000574
29	intellectual disability, mild ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0001256
30	brachycephaly ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000248
31	generalized hirsutism ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0002230
32	atrial septal defect ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0001631
33	clinodactyly of the 5th finger ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0004209
34	abnormal mitral valve morphology ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0001633
35	symphalangism affecting the phalanges of the hand ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0009773
36	abnormality of the respiratory system ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0002086
37	high anterior hairline ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0009890
38	abnormal facial shape ³³			HP:0001999
39	anonychia ³³			HP:0001798
40	nail dysplasia ³³			HP:0002164
41	wide nose ³³			HP:0000445
42	hypoplastic fingernail ⁶⁰		Very frequent (99-80%)
43	short middle phalanx of the 5th finger ³³			HP:0004220
44	congenital cystic adenomatoid malformation of the lung ³³			HP:0010959
45	short distal phalanx of the 5th finger ³³			HP:0004227

Symptoms via clinical synopsis from OMIM:

⁵⁸

Head:
microcephaly

Nails:
nail dysplasia/aplasia
tiny fingernails

Limbs:
hypo/aplasia of terminal fifth digits
abnormal phalanges

Pulmonary:
cystic adenomatoid lung disease

Facies:
pointed chin
broad nose
facial dysmorphism
flat malar area
large mouth

Growth:
pre- and postnatal short stature

Neuro:
normal or only mildly reduced intelligence

Radiology:
hypo/aplasia or fusion of the distal phalanges of the fifth finger and toe
brachymesophalangism v

Clinical features from OMIM:

113477

Sources

Drugs & Therapeutics for Brachymorphism-Onychodysplasia-Dysphalangism Syndrome

Search Clinical Trials , NIH Clinical Center for Brachymorphism-Onychodysplasia-Dysphalangism Syndrome

Sources

Genetic Tests for Brachymorphism-Onychodysplasia-Dysphalangism Syndrome

Sources

Anatomical Context for Brachymorphism-Onychodysplasia-Dysphalangism Syndrome

MalaCards organs/tissues related to Brachymorphism-Onychodysplasia-Dysphalangism Syndrome:

⁴²

Lung, Bone

Sources

Publications for Brachymorphism-Onychodysplasia-Dysphalangism Syndrome

Articles related to Brachymorphism-Onychodysplasia-Dysphalangism Syndrome:

#	Title	Authors	Year
1	New autosomal dominant syndrome reminiscent of Coffin-Siris syndrome and Brachymorphism-Onychodysplasia-Dysphalangism syndrome. ( 10649791 )	Elliott AM...Teebi AS	2000
2	Two sisters with growth failure, microcephaly, peculiar facies and apical dystrophy: the presentation of brachymorphism-onychodysplasia-dysphalangism syndrome? ( 9546830 )	Ounap K...Lipping-Sitska M	1998
3	Brachymorphism-onychodysplasia-dysphalangism syndrome. ( 8445623 )	Verloes A...Koulischer L	1993

Sources

Genes for Brachymorphism-Onychodysplasia-Dysphalangism Syndrome

Genes related to Brachymorphism-Onychodysplasia-Dysphalangism Syndrome (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	ACTL6A	Actin Like 6A	Protein Coding	18.66	GeneCards inferred via : Disorders (show sections)

Sources

Variations for Brachymorphism-Onychodysplasia-Dysphalangism Syndrome

Sources

Expression for Brachymorphism-Onychodysplasia-Dysphalangism Syndrome

Search GEO for disease gene expression data for Brachymorphism-Onychodysplasia-Dysphalangism Syndrome.

Sources

Pathways for Brachymorphism-Onychodysplasia-Dysphalangism Syndrome

Sources

GO Terms for Brachymorphism-Onychodysplasia-Dysphalangism Syndrome

Sources

Sources for Brachymorphism-Onychodysplasia-Dysphalangism Syndrome

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia