FDH
MCID: FCL009
MIFTS: 65

Focal Dermal Hypoplasia (FDH) malady

Neuronal diseases, Eye diseases, Skin diseases, Fetal diseases categories

Summaries for Focal Dermal Hypoplasia

About this section
Sources:
21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
NIH Rare Diseases:42 Focal dermal hypoplasia is a genetic disorder that primarily affects the skin, skeleton, eyes, and face. most individuals with this condition are female. males usually have milder signs and symptoms than females. although intelligence is typically unaffected, some individuals have intellectual disability. this condition is caused by mutations in the porcn gene and is inherited in an x-linked dominant manner. most cases of focal dermal hypoplasia in females result from new mutations in the porcn gene and occur in people with no history of the disorder in their family. when focal dermal hypoplasia occurs in males, it always results from a new mutation in this gene that is not inherited. last updated: 9/23/2011

MalaCards: Focal Dermal Hypoplasia, also known as goltz syndrome, is related to nevoid basal cell carcinoma syndrome and brachydactyly, and has symptoms including acute abdominal pain/colic, spina bifida and intellectual deficit/mental/psychomotor retardation/learning disability. An important gene associated with Focal Dermal Hypoplasia is PORCN (porcupine homolog (Drosophila)). The compounds protochlorophyllide and hydride have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and kidney, and related mouse phenotypes are renal/urinary system and limbs/digits/tail.

Genetics Home Reference:21 Focal dermal hypoplasia is a genetic disorder that primarily affects the skin, skeleton, eyes, and face. About 90 percent of affected individuals are female. Males usually have milder signs and symptoms than females. Although intelligence is typically unaffected, some individuals have intellectual disability.

Wikipedia:63 Focal dermal hypoplasia (also known as \"Goltz syndrome\") is a form of ectodermal dysplasia. It is a... more...

Description from OMIM:46 305600

GeneReviews summary for focal-dh

Aliases & Classifications for Focal Dermal Hypoplasia

About this section
Sources:
8Disease Ontology, 9diseasecard, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 48Orphanet, 60UMLS, 39NCIt, 56SNOMED-CT, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Neuronal diseases, Eye diseases, Skin diseases


Characteristics (Orphanet epidemiological data):

48
focal dermal hypoplasia:
Inheritance: X-linked dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

focal dermal hypoplasia 8 9 19 42 20 22 21 46 10 48 60
goltz syndrome 8 19 42 21 48
goltz-gorlin syndrome 19 21 48
basal cell nevus syndrome 60
goltz gorlin syndrome 42
dhof 42
fodh 42
fdh 42


External Ids:

Disease Ontology8 DOID:2120
NCIt39 C84715
OMIM46 305600
MeSH34 D005489
SNOMED-CT56 205573006, 2298005
MESH via Orphanet35 D005489
ICD10 via Orphanet26 Q82.8
SNOMED-CT via Orphanet57 205573006, 2298005
UMLS via Orphanet61 C0016395

Related Diseases for Focal Dermal Hypoplasia

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Graphical network of the top 20 diseases related to Focal Dermal Hypoplasia:



Diseases related to focal dermal hypoplasia

Clinical Features for Focal Dermal Hypoplasia

About this section
Sources:
46OMIM, 48Orphanet
See all sources

Clinical features from OMIM:

305600

Clinical synopsis from OMIM:

305600

Symptoms:

48 (show all 70)
  • acute abdominal pain/colic
  • spina bifida
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • pointed chin
  • narrow nasal bridge
  • omphalocele/exomphalos
  • multicystic kidney/renal dysplasia
  • ectopic/horseshoe/fused kidneys
  • alopecia
  • subcutaneous nodules/lipomas/tumefaction/swelling
  • skin tumors/lumps/epidermal cysts
  • erythema/erythematous lesions/erythroderma/polymorphous erythema
  • pelvis anomaly/narrow/broad iliac wings/pubis abnormality
  • scoliosis
  • anomalies of the ribs
  • inguinal/inguinoscrotal/crural hernia
  • umbilical hernia
  • abnormal fat distribution/lipodystrophy
  • bone/osseous neoplasm/tumor/carcinoma/cancer
  • megaureter/hydronephrosis/pyeloureteral junction syndrome
  • agenesis/hypoplasia/aplasia of kidneys
  • pulmonary veins anomalies
  • patent ductus arteriosus
  • ventricular septal defect/interventricular communication
  • cardiac septal defect
  • mediastinal anomalies
  • diaphragmatic hernia/defect/agenesis
  • hypoplastic lungs/pulmonary hypoplasia/agenesis
  • acute hepatic failure
  • gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia
  • duodenal atresia/stenosis/megaduodenum
  • clavicle absent/abnormal
  • anomalies of teeth and dentition
  • macules
  • skin hypoplasia/aplasia/atrophy
  • syndactyly of toes
  • oligodactyly/ectrodactyly of toes
  • lower limb asymmetry/hemiatrophy/hemihypertrophy
  • camptodactyly of fingers
  • oligodactyly/ectrodactyly of fingers
  • upper limb polydactyly/hexadactyly
  • syndactyly of fingers/interdigital palm
  • anomalies of hands
  • upper limb asymmetry/hemiatrophy/hemihypertrophy
  • herniae
  • structural anomalies of middle ear/ossicles/tympanic cavity
  • low set ears/posteriorly rotated ears
  • anomalies of ear and hearing
  • enamel anomaly
  • anodontia/oligodontia/hypodontia
  • thin skin
  • anetodermia/dermal atrophy
  • strabismus/squint
  • choroidal anomalies/atrophy/choroideremia
  • lens dislocation/luxation/subluxation/ectopia lentis
  • corneal clouding/opacity/vascularisation
  • coloboma of iris
  • aniridia/iris hypoplasia
  • anophthalmos/anophthalmia/microphthalmos/microphthalmia
  • dental malocclusion
  • facial structural asymmetry/facial hemiatrophy/facial hemihypertrophy
  • early death/lethality
  • x-linked dominant inheritance
  • epiphyseal anomaly
  • rough trabeculation of bone
  • nails anomalies
  • warts/papillomas
  • telangiectasiae of the skin
  • abnormal pigmentary skin changes/skin pigmentation anomalies
  • tooth shape anomaly

Drugs & Therapeutics for Focal Dermal Hypoplasia

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Focal Dermal Hypoplasia

Drug clinical trials:

Search ClinicalTrials for Focal Dermal Hypoplasia

Search NIH Clinical Center for Focal Dermal Hypoplasia

Search CenterWatch for Focal Dermal Hypoplasia

Genetic Tests for Focal Dermal Hypoplasia

About this section
Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Focal Dermal Hypoplasia:

id Genetic test Affiliating Genes
1 Focal Dermal Hypoplasia20 22 PORCN

Anatomical Context for Focal Dermal Hypoplasia

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Focal Dermal Hypoplasia:

32
Skin, Eye, Kidney, Bone, Lung, Uterus

Animal Models for Focal Dermal Hypoplasia or affiliated genes

About this section
Sources:
36MGI
See all sources

MGI Mouse Phenotypes related to Focal Dermal Hypoplasia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053679.0PTCH1, WNT3A, PORCN, POR, OFD1
2MP:00053718.6PTCH1, WLS, OFD1, POR, PORCN, WNT3A
3MP:00053828.4WLS, OFD1, POR, PORCN, WNT3A, PTCH1
4MP:00053818.4WLS, OFD1, PORCN, WNT3A, IKBKG, PTCH1
5MP:00053808.3WLS, OFD1, POR, PORCN, HCCS, WNT3A
6MP:00053858.1OFD1, POR, HCCS, WNT3A, IKBKG, PTCH1
7MP:00107687.2WLS, OFD1, POR, PORCN, HCCS, WNT3A

Publications for Focal Dermal Hypoplasia

About this section
Sources:
50PubMed
See all sources

Articles related to Focal Dermal Hypoplasia:

(show top 50)    (show all 168)
idTitleAuthorsYear
1
Focal Dermal Hypoplasia: Report of a Case with Myelomeningocele, Arnold-Chiari Malformation and Hydrocephalus with a Review of Neurologic Manifestations of Goltz Syndrome. (24387693)
2014
2
Zygotic porcn paternal allele deletion in mice to model human focal dermal hypoplasia. (24223895)
2013
3
A case report of focal dermal hypoplasia-Goltz syndrome. (23984248)
2013
4
Treatment of recalcitrant excessive granulation tissue with photodynamic therapy in an eight-year-old patient with focal dermal hypoplasia syndrome. (21995324)
2012
5
A novel mutation in the PORCN gene underlying a case of almost unilateral focal dermal hypoplasia. (22250236)
2012
6
Esophageal papillomas and skin abnormalities. Focal dermal hypoplasia (Goltz syndrome) manifesting with esophageal papillomatosis. (21272558)
2011
7
A case of mosaic Goltz syndrome (focal dermal hypoplasia) in a male patient. (21332693)
2011
8
Goltz syndrome (focal dermal hypoplasia) with unilateral ocular, cutaneous and skeletal features: case report. (21092077)
2010
9
Novel PORCN mutations in focal dermal hypoplasia. (19863546)
2009
10
PORCN gene mutations and the protean nature of focal dermal hypoplasia. (19292719)
2009
11
PORCN mutations in focal dermal hypoplasia: coping with lethality. (19309688)
2009
12
Focal dermal hypoplasia resulting from a new nonsense mutation, p.E300X, in the PORCN gene. (17951029)
2008
13
Erythematous atrophic macules and papules following the lines of Blaschko. Focal dermal hypoplasia (FDH), or Goltz syndrome. (17224552)
2007
14
Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia. (17546031)
2007
15
Airway management in a patient with focal dermal hypoplasia. (17056997)
2006
16
Focal dermal hypoplasia (Goltz syndrome). (16394441)
2005
17
Focal dermal hypoplasia: oral and dental findings. (16302603)
2005
18
Focal dermal hypoplasia associated with split sternum--Goltz syndrome. (15602093)
2005
19
Enamel defects and Lyonization in focal dermal hypoplasia. (15583541)
2004
20
Retinal detachment in focal dermal hypoplasia. (15134118)
2004
21
Focal dermal hypoplasia: a case report and review of literature. (15008304)
2003
22
Focal dermal hypoplasia -- oral and dental findings. (12605631)
2003
23
Focal dermal hypoplasia (Goltz-Gorlin syndrome). (12666897)
2002
24
Dental and oral lesions in two patients with focal dermal hypoplasia (Goltz syndrome). (11128257)
2000
25
Focal dermal hypoplasia syndrome. (20921687)
1999
26
Focal dermal hypoplasia (Goltz syndrome) presenting as a severe fetal malformation syndrome. (9220199)
1997
27
Electronmicroscopic observation of the basement membrane zone in focal dermal hypoplasia. (8919515)
1996
28
Corneal abnormalities in a mother and daughter with focal dermal hypoplasia (Goltz-Gorlin syndrome). (7639315)
1995
29
Congenital ventral hernia in association with focal dermal hypoplasia. (8747581)
1995
30
Focal Dermal Hypoplasia (20301712)
1993
31
Focal dermal hypoplasia (Goltz syndrome): an adult case with multisystemic involvement. (8425976)
1993
32
Focal dermal hypoplasia syndrome in a male patient. Report of a case and histologic and immunohistochemical studies. (1497362)
1992
33
Father-to-daughter transmission of focal dermal hypoplasia associated with nonrandom X-inactivation: support for X-linked inheritance and paternal X chromosome mosaicism. (1951439)
1991
34
Focal dermal hypoplasia syndrome in the neonate. (2704015)
1989
35
Multiple mesoectodermal defects in an infant. Focal dermal hypoplasia syndrome, or Goltz' syndrome. (3767408)
1986
36
Focal dermal hypoplasia syndrome. Case report and literature review. (6630607)
1983
37
Giant cell tumour of bone in focal dermal hypoplasia. (6883033)
1983
38
Goltz syndrome: focal dermal hypoplasia. (6632814)
1983
39
Focal dermal hypoplasia syndrome. An electron microscopical study of the skin lesions. (7119220)
1982
40
Focal dermal hypoplasia in a father and daughter. (7217396)
1981
41
Focal dermal hypoplasia (Goltz syndrome): case reports. (211652)
1978
42
Focal dermal hypoplasia (Goltz syndrome) in a male. (665231)
1978
43
Focal dermal hypoplasia (Goltz's syndrome) manifesting as condyloma acuminatum: report of a case and review of the literature. (188606)
1977
44
Letter: Striated osteopathy in focal dermal hypoplasia. (1190805)
1975
45
Focal dermal hypoplasia (Goltz's syndrome). (1115521)
1975
46
Focal dermal hypoplasia. (4212018)
1974
47
Focal dermal hypoplasia. (5565085)
1971
48
Agenesis of the corpus callosum in a case of focal dermal hypoplasia. (5312676)
1970
49
Focal dermal hypoplasia syndrome. A review of the literature and report of two cases. (5416790)
1970
50
Picture of the month. Focal dermal hypoplasia (Goltz's syndrome). (4310577)
1969

Genetic Variations for Focal Dermal Hypoplasia

About this section
Sources:
62UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Focal Dermal Hypoplasia:

62 (show all 15)
id Symbol AA change Variation ID SNP ID
1PORCNp.Gly60ArgVAR_035089
2PORCNp.Arg365GlyVAR_035090
3PORCNp.Ser136PheVAR_058899
4PORCNp.Gly168ArgVAR_058900
5PORCNp.Val258GluVAR_058902
6PORCNp.His341LeuVAR_058903
7PORCNp.Arg365GlnVAR_058904
8PORCNp.Cys385ArgVAR_058905
9PORCNp.Trp439ArgVAR_058906
10PORCNp.His252TyrVAR_065189
11PORCNp.Ser297LeuVAR_065190
12PORCNp.Leu331ArgVAR_065191
13PORCNp.Glu361ValVAR_065192
14PORCNp.Cys385TyrVAR_065193
15PORCNp.Ala374ProVAR_066061

Expression for genes affiliated with Focal Dermal Hypoplasia

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Focal Dermal Hypoplasia

Search GEO for disease gene expression data for Focal Dermal Hypoplasia.

Pathways for genes affiliated with Focal Dermal Hypoplasia

About this section

Compounds for genes affiliated with Focal Dermal Hypoplasia

About this section
Sources:
44Novoseek, 28IUPHAR, 49PharmGKB, 11DrugBank
See all sources

Compounds related to Focal Dermal Hypoplasia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1protochlorophyllide449.8PORCN, POR
2hydride449.6ADH5, POR
3quinidine44 28 49 1112.5POR, ORM1

GO Terms for genes affiliated with Focal Dermal Hypoplasia

About this section
Sources:
16Gene Ontology
See all sources

Cellular components related to Focal Dermal Hypoplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1MSL complexGO:0724879.2MSL2, MSL3

Biological processes related to Focal Dermal Hypoplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1histone H4-K16 acetylationGO:0439849.2MSL2, MSL3

Products for genes affiliated with Focal Dermal Hypoplasia

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Focal Dermal Hypoplasia

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet