Lymphedema-Hypoparathyroidism Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Sources

Aliases & Classifications for Lymphedema-Hypoparathyroidism Syndrome

MalaCards integrated aliases for Lymphedema-Hypoparathyroidism Syndrome:

Name: Lymphedema-Hypoparathyroidism Syndrome ⁵⁶ ⁵⁸

Dahlberg Borer Newcomer Syndrome ⁵² ⁷¹

Hypoparathyroidism-Lymphedema Syndrome ⁵⁶

Hypoparathyroidism Lymphedema Syndrome ⁵²

Lymphedema Hypoparathyroidism Syndrome ⁵²

Dahlberg-Borer-Newcomer Syndrome ⁵⁸

Dahlberg Syndrome ⁵⁸

Characteristics:

Orphanet epidemiological data:

⁵⁸

dahlberg-borer-newcomer syndrome
Inheritance: Autosomal recessive,X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

⁵⁶

Inheritance:
autosomal recessive

HPO:

³¹

lymphedema-hypoparathyroidism syndrome:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases
Anatomical: Eye diseases Cardiovascular diseases Skin diseases Endocrine diseases Immune diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other specified congenital malformation syndromes affecting multiple systems

Other specified congenital malformation syndromes, not elsewhere classified

Orphanet: ⁵⁸

Rare eye diseases

Rare circulatory system diseases

Rare skin diseases

Rare endocrine diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁶ 247410

MESH via Orphanet ⁴⁴ C535769

ICD10 via Orphanet ³³ Q87.8

UMLS via Orphanet ⁷² C1855477

Orphanet ⁵⁸ ORPHA1563

MedGen ⁴¹ C1855477

UMLS ⁷¹ C1855477

Sources

Summaries for Lymphedema-Hypoparathyroidism Syndrome

NIH Rare Diseases : ⁵² The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1563 Definition Dahlberg-Borer-Newcomer syndrome is a very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterized by the association of hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hyperthricoses, and nail abnormalities. Visit the Orphanet disease page for more resources.

MalaCards based summary : Lymphedema-Hypoparathyroidism Syndrome, is also known as dahlberg borer newcomer syndrome. Affiliated tissues include bone, kidney and skin, and related phenotypes are wide nasal bridge and short stature

Wikipedia : ⁷⁴ Dahlberg Borer Newcomer syndrome is a rare autosomal X-linked recessive genetic condition characterized... more...

More information from OMIM: 247410

Sources

Related Diseases for Lymphedema-Hypoparathyroidism Syndrome

Sources

Symptoms & Phenotypes for Lymphedema-Hypoparathyroidism Syndrome

Human phenotypes related to Lymphedema-Hypoparathyroidism Syndrome:

⁵⁸ ³¹ (show all 22)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	wide nasal bridge ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000431
2	short stature ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0004322
3	nephropathy ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000112
4	hypothyroidism ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000821
5	lymphedema ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001004
6	thickened skin ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001072
7	hypohidrosis ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000966
8	mitral valve prolapse ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001634
9	brachydactyly ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001156
10	generalized hirsutism ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002230
11	telecanthus ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000506
12	hypoparathyroidism ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000829
13	hypocalcemia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002901
14	short distal phalanx of finger ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0009882
15	anonychia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001798
16	cataract ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000518
17	renal insufficiency ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000083
18	restrictive ventilatory defect ³¹			HP:0002091
19	ptosis ³¹			HP:0000508
20	hypertrichosis ³¹			HP:0000998
21	pulmonary lymphangiectasia ³¹			HP:0006521
22	increased carrying angle ³¹			HP:0003102

Symptoms via clinical synopsis from OMIM:

⁵⁶

Growth Height:
short stature

Skin Nails Hair Skin:
lymphedema

Cardiovascular Heart:
mitral valve prolapse

Endocrine Features:
hypoparathyroidism

Skeletal Limbs:
increased carrying angle

Skin Nails Hair Hair:
hypertrichosis (face and forehead)

Genitourinary Kidneys:
nephropathy
renal failure

Head And Neck Eyes:
ptosis
telecanthus
cataracts

Skeletal Hands:
brachydactyly

Respiratory Lung:
pulmonary lymphangiectasia
restrictive lung disease

Head And Neck Nose:
broad nasal bridge

Clinical features from OMIM:

247410

Sources

Drugs & Therapeutics for Lymphedema-Hypoparathyroidism Syndrome

Search Clinical Trials , NIH Clinical Center for Lymphedema-Hypoparathyroidism Syndrome

Sources

Genetic Tests for Lymphedema-Hypoparathyroidism Syndrome

Sources

Anatomical Context for Lymphedema-Hypoparathyroidism Syndrome

MalaCards organs/tissues related to Lymphedema-Hypoparathyroidism Syndrome:

⁴⁰

Bone, Kidney, Skin, Eye, Lung

Sources

Publications for Lymphedema-Hypoparathyroidism Syndrome

Articles related to Lymphedema-Hypoparathyroidism Syndrome:

#	Title	Authors	PMID	Year
1	Autosomal or X-linked recessive syndrome of congenital lymphedema, hypoparathyroidism, nephropathy, prolapsing mitral valve, and brachytelephalangy. ⁵⁶	Dahlberg PJ...Yutuc WR	6638075	1983

Sources

Genes for Lymphedema-Hypoparathyroidism Syndrome

Sources

Variations for Lymphedema-Hypoparathyroidism Syndrome

Sources

Expression for Lymphedema-Hypoparathyroidism Syndrome

Search GEO for disease gene expression data for Lymphedema-Hypoparathyroidism Syndrome.

Sources

Pathways for Lymphedema-Hypoparathyroidism Syndrome

Sources

GO Terms for Lymphedema-Hypoparathyroidism Syndrome

Sources

Sources for Lymphedema-Hypoparathyroidism 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 FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia