MCID: LYM123
MIFTS: 21

Lymphedema-Hypoparathyroidism Syndrome

Categories: Cardiovascular diseases, Endocrine diseases, Eye diseases, Fetal diseases, Immune diseases, Rare diseases, Skin diseases

Aliases & Classifications for Lymphedema-Hypoparathyroidism Syndrome

MalaCards integrated aliases for Lymphedema-Hypoparathyroidism Syndrome:

Name: Lymphedema-Hypoparathyroidism Syndrome 56
Dahlberg Borer Newcomer Syndrome 52 71
Lymphedema-Hypoparathyroidism Syndrome Syndrome 58
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:

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

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 hypothyroidism and wide nasal bridge

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

More information from OMIM: 247410

Related Diseases for Lymphedema-Hypoparathyroidism Syndrome

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 hypothyroidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000821
2 wide nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000431
3 brachydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001156
4 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
5 nephropathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000112
6 generalized hirsutism 58 31 hallmark (90%) Very frequent (99-80%) HP:0002230
7 thickened skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0001072
8 hypohidrosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000966
9 lymphedema 58 31 hallmark (90%) Very frequent (99-80%) HP:0001004
10 hypoparathyroidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000829
11 mitral valve prolapse 58 31 hallmark (90%) Very frequent (99-80%) HP:0001634
12 telecanthus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000506
13 hypocalcemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002901
14 anonychia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001798
15 short distal phalanx of finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0009882
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 ptosis 31 HP:0000508
19 restrictive ventilatory defect 31 HP:0002091
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
Head And Neck Eyes:
ptosis
telecanthus
cataracts

Growth Height:
short stature

Skin Nails Hair Skin:
lymphedema

Cardiovascular Heart:
mitral valve prolapse

Skeletal Limbs:
increased carrying angle

Skin Nails Hair Hair:
hypertrichosis (face and forehead)

Skeletal Hands:
brachydactyly

Genitourinary Kidneys:
nephropathy
renal failure

Endocrine Features:
hypoparathyroidism

Respiratory Lung:
pulmonary lymphangiectasia
restrictive lung disease

Head And Neck Nose:
broad nasal bridge

Clinical features from OMIM:

247410

Drugs & Therapeutics for Lymphedema-Hypoparathyroidism Syndrome

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

Genetic Tests for Lymphedema-Hypoparathyroidism Syndrome

Anatomical Context for Lymphedema-Hypoparathyroidism Syndrome

MalaCards organs/tissues related to Lymphedema-Hypoparathyroidism Syndrome:

40
Bone, Kidney, Skin, Eye, Lung

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
6638075 1983

Variations for Lymphedema-Hypoparathyroidism Syndrome

Expression for Lymphedema-Hypoparathyroidism Syndrome

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

Pathways for Lymphedema-Hypoparathyroidism Syndrome

GO Terms for Lymphedema-Hypoparathyroidism Syndrome

Sources for Lymphedema-Hypoparathyroidism Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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