MCID: HLL001
MIFTS: 54

Hallermann-Streiff Syndrome malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Bone diseases, Skin diseases, Fetal diseases

Aliases & Classifications for Hallermann-Streiff Syndrome

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Aliases & Descriptions for Hallermann-Streiff Syndrome:

Name: Hallermann-Streiff Syndrome 10 11 45 22 12 51 49 67
Francois Dyscephalic Syndrome 10 45 22 67
Hallermann's Syndrome 10 36 65
Hallermann Streiff Syndrome 45 24
Hss 45 67
 
Hallermann Streiff Francois Syndrome 45
François Dyscephalic Syndrome 51
Oculomandibulofacial Syndrome 51
Hallerman - Streiff Syndrome 10

Characteristics:

Orphanet epidemiological data:

51
hallermann-streiff syndrome:
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood

HPO:

61
hallermann-streiff syndrome:
Inheritance: sporadic


Classifications:



External Ids:

Disease Ontology10 DOID:4534
MeSH36 D006210
NCIt42 C84746
Orphanet51 2108
SNOMED-CT59 205417000, 7903009
ICD10 via Orphanet28 Q87.0
UMLS via Orphanet66 C0018522
MedGen34 C0018522
OMIM49 234100
UMLS65 C0018522

Summaries for Hallermann-Streiff Syndrome

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NIH Rare Diseases:45 Hallermann-streiff syndrome is a rare, congenital condition characterized mainly by abnormalities of the skull and facial bones; characteristic facial features; sparse hair; eye abnormalities; dental defects; degenerative skin changes; and proportionate short stature. intellectual disability is present in some individuals. almost all reported cases of the condition appear to have occurred randomly for unknown reasons (sporadically) and are thought to have resulted from a new mutation in the affected individual. treatment is symptomatic and supportive. last updated: 7/23/2012

MalaCards based summary: Hallermann-Streiff Syndrome, also known as francois dyscephalic syndrome, is related to neurodegeneration with brain iron accumulation 1 and neurodegeneration with brain iron accumulation disorders, and has symptoms including aplasia/hypoplasia of the skin, aplasia/hypoplasia affecting the eye and reduced bone mineral density. An important gene associated with Hallermann-Streiff Syndrome is GJA1 (Gap Junction Protein Alpha 1), and among its related pathways are Oligomerization of connexins into connexons and Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs). Affiliated tissues include skin, bone and eye, and related mouse phenotypes are vision/eye and respiratory system.

Disease Ontology:10 A syndrome that affects growth, cranial development, hair growth and dental development.

OMIM:49 Hallermann-Streiff syndrome is characterized by a typical skull shape (brachycephaly with frontal bossing),... (234100) more...

UniProtKB/Swiss-Prot:67 Hallermann-Streiff syndrome: A disorder characterized by a typical skull shape (brachycephaly with frontal bossing), hypotrichosis, microphthalmia, cataracts, beaked nose, micrognathia, skin atrophy, dental anomalies and proportionate short stature. Mental retardation is present in a minority of cases.

Related Diseases for Hallermann-Streiff Syndrome

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Graphical network of the top 20 diseases related to Hallermann-Streiff Syndrome:



Diseases related to hallermann-streiff syndrome

Symptoms for Hallermann-Streiff Syndrome

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Symptoms by clinical synopsis from OMIM:

234100

Clinical features from OMIM:

234100

Symptoms:

 51 (show all 52)
  • brachycephaly/flat occiput
  • frontal bossing/prominent forehead
  • hypoplastic mandibula/partial absence of the mandibula
  • anophthalmos/anophthalmia/microphthalmos/microphthalmia
  • cataract/lens opacification
  • beaked nose
  • anomalies of teeth and dentition
  • clavicle absent/abnormal
  • anomalies of the ribs
  • skin hypoplasia/aplasia/atrophy
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • decreased body hair/axillar/pubic hairlessness
  • alopecia
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • short stature/dwarfism/nanism
  • large fontanelle/delayed fontanelle closure
  • flat cheek bones/malar hypoplasia
  • micrognathia/retrognathia/micrognathism/retrognathism
  • visual loss/blindness/amblyopia
  • anomalies of eyelids, eyelashes and lacrimal system
  • telecanthus/canthal dystopy
  • small/triangular nares/nostrils
  • microstomia/little mouth
  • anomalies of tongue, gingiva and oral mucosa
  • glossoptosis
  • high vaulted/narrow palate
  • supernumerary teeth/polyodontia
  • premature eruption of teeth/natal teeth
  • abnormal hair texture/hair dysplasia
  • mutiple fractures/bone fragility
  • skull/cranial anomalies
  • microcephaly
  • glaucoma
  • chronic uveitis/blepharitis/episcleritis/scleritis/conjonctivitis/keratitis
  • myopia
  • strabismus/squint
  • nystagmus
  • choanal atresia
  • small hand/acromicria
  • clinodactyly of fifth finger
  • small foot
  • situs inversus visceralis/colon/intestine trasposition/heterotaxia
  • tracheomalacia/tracheobronchomalacia
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • congenital cardiac anomaly/malformation/cardiopathy
  • heart/cardiac failure
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • hypothyroidy
  • cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • autosomal recessive inheritance
  • early death/lethality

HPO human phenotypes related to Hallermann-Streiff Syndrome:

(show all 104)
id Description Frequency HPO Source Accession
1 aplasia/hypoplasia of the skin hallmark (90%) HP:0008065
2 aplasia/hypoplasia affecting the eye hallmark (90%) HP:0008056
3 reduced bone mineral density hallmark (90%) HP:0004349
4 short stature hallmark (90%) HP:0004322
5 frontal bossing hallmark (90%) HP:0002007
6 alopecia hallmark (90%) HP:0001596
7 abnormality of the clavicle hallmark (90%) HP:0000889
8 abnormality of the ribs hallmark (90%) HP:0000772
9 cataract hallmark (90%) HP:0000518
10 convex nasal ridge hallmark (90%) HP:0000444
11 micrognathia hallmark (90%) HP:0000347
12 increased number of teeth typical (50%) HP:0011069
13 abnormality of hair texture typical (50%) HP:0010719
14 hypoplasia of the zygomatic bone typical (50%) HP:0010669
15 advanced eruption of teeth typical (50%) HP:0006288
16 abnormality of the nares typical (50%) HP:0005288
17 recurrent fractures typical (50%) HP:0002757
18 telecanthus typical (50%) HP:0000506
19 visual impairment typical (50%) HP:0000505
20 micrognathia typical (50%) HP:0000347
21 abnormality of the fontanelles or cranial sutures typical (50%) HP:0000235
22 abnormality of the palate typical (50%) HP:0000174
23 glossoptosis typical (50%) HP:0000162
24 narrow mouth typical (50%) HP:0000160
25 intellectual disability 15% HP:0001249
26 cognitive impairment occasional (7.5%) HP:0100543
27 inflammatory abnormality of the eye occasional (7.5%) HP:0100533
28 aplasia/hypoplasia of the cerebellum occasional (7.5%) HP:0007360
29 short palm occasional (7.5%) HP:0004279
30 clinodactyly of the 5th finger occasional (7.5%) HP:0004209
31 abdominal situs inversus occasional (7.5%) HP:0003363
32 tracheomalacia occasional (7.5%) HP:0002779
33 respiratory insufficiency occasional (7.5%) HP:0002093
34 short foot occasional (7.5%) HP:0001773
35 congestive heart failure occasional (7.5%) HP:0001635
36 hypothyroidism occasional (7.5%) HP:0000821
37 nystagmus occasional (7.5%) HP:0000639
38 myopia occasional (7.5%) HP:0000545
39 glaucoma occasional (7.5%) HP:0000501
40 strabismus occasional (7.5%) HP:0000486
41 choanal atresia occasional (7.5%) HP:0000453
42 microcephaly occasional (7.5%) HP:0000252
43 cryptorchidism occasional (7.5%) HP:0000028
44 increased number of teeth HP:0011069
45 thin calvarium HP:0010539
46 sparse hair HP:0008070
47 decreased number of sternal ossification centers HP:0006611
48 recurrent pneumonia HP:0006532
49 hypotrichosis of the scalp HP:0004782
50 dermal atrophy HP:0004334
51 proportionate short stature HP:0003508
52 hyperlordosis HP:0003307
53 slender long bone HP:0003100
54 metaphyseal widening HP:0003016
55 obstructive sleep apnea HP:0002870
56 tracheomalacia HP:0002779
57 platybasia HP:0002691
58 scoliosis HP:0002650
59 wormian bones HP:0002645
60 spina bifida HP:0002414
61 fine hair HP:0002213
62 recurrent respiratory infections HP:0002205
63 pulmonary hypertension HP:0002092
64 generalized tonic-clonic seizures HP:0002069
65 frontal bossing HP:0002007
66 abnormality of the nasopharynx HP:0001739
67 selective tooth agenesis HP:0001592
68 small for gestational age HP:0001518
69 joint hypermobility HP:0001382
70 choreoathetosis HP:0001266
71 abnormality of the hand HP:0001155
72 telangiectasia HP:0001009
73 dry skin HP:0000958
74 thin ribs HP:0000883
75 pectus excavatum HP:0000767
76 hyperactivity HP:0000752
77 natal tooth HP:0000695
78 dental malocclusion HP:0000689
79 sparse eyelashes HP:0000653
80 nystagmus HP:0000639
81 iris coloboma HP:0000612
82 blue sclerae HP:0000592
83 optic nerve coloboma HP:0000588
84 microphthalmia HP:0000568
85 chorioretinal coloboma HP:0000567
86 sparse eyebrow HP:0000535
87 cataract HP:0000518
88 downslanted palpebral fissures HP:0000494
89 strabismus HP:0000486
90 narrow nose HP:0000460
91 underdeveloped nasal alae HP:0000430
92 low-set ears HP:0000369
93 micrognathia HP:0000347
94 malar flattening HP:0000272
95 dolichocephaly HP:0000268
96 microcephaly HP:0000252
97 brachycephaly HP:0000248
98 parietal bossing HP:0000242
99 thin vermilion border HP:0000233
100 everted lower lip vermilion HP:0000232
101 high palate HP:0000218
102 narrow palate HP:0000189
103 narrow mouth HP:0000160
104 cryptorchidism HP:0000028

Drugs & Therapeutics for Hallermann-Streiff Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Hallermann-Streiff Syndrome


Cochrane evidence based reviews: hallermann's syndrome

Genetic Tests for Hallermann-Streiff Syndrome

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Genetic tests related to Hallermann-Streiff Syndrome:

id Genetic test Affiliating Genes
1 Hallermann-Streiff Syndrome22

Anatomical Context for Hallermann-Streiff Syndrome

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MalaCards organs/tissues related to Hallermann-Streiff Syndrome:

33
Skin, Bone, Eye, Heart, Testes, Cerebellum, Colon

Animal Models for Hallermann-Streiff Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Hallermann-Streiff Syndrome:

38 (show all 12)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.6GJA1, GJB1, GJC2, IGF2, NOTCH1
2MP:00053888.2ERBB4, GJA1, IGF1, IGF2, NOTCH1
3MP:00053698.1ERBB4, GJA1, IGF1, IGF2, NOTCH1
4MP:00053868.0BCS1L, ERBB4, GJA1, GJB1, GJC2, IGF2
5MP:00053797.9BCS1L, ERBB4, GJA1, IGF1, IGF2, NOTCH1
6MP:00036317.4ERBB4, GJA1, GJB1, GJC2, IGF1, IGF2
7MP:00053977.1ERBB4, GJA1, GJB1, GJC2, IGF1, IGF2
8MP:00053847.0BCS1L, ERBB4, GJA1, GJB1, GJC2, IGF1
9MP:00053876.8ERBB4, GJA1, GJB1, GJC2, IGF1, IGF2
10MP:00107686.6BCS1L, ERBB4, GJA1, GJB1, GJC2, IGF1

Publications for Hallermann-Streiff Syndrome

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Articles related to Hallermann-Streiff Syndrome:

(show top 50)    (show all 95)
idTitleAuthorsYear
1
Letter to the Editor &quot;Is endoscopic ear surgery an alternative to the modified Bondy technique for limited epitympanic cholesteatoma?&quot; by Prasad et al. (26924740)
2016
2
Alcohol dehydrogenase 1C (ADH1C) gene polymorphism and alcoholic liver cirrhosis risk: a meta analysis. (26379912)
2015
3
Prenatal vitamin C and E supplementation in smokers is associated with reduced placental abruption and preterm birth: a secondary analysis. (25516497)
2014
4
Transjugular insertion of bare-metal biliary stent for the treatment of distal malignant obstructive jaundice complicated by coagulopathy. (22864606)
2013
5
Sleep duration and ischemic heart disease and all-cause mortality: prospective cohort study on effects of tranquilizers/hypnotics and perceived stress. (23804297)
2013
6
Long-term survival following partial vs radical nephrectomy among older patients with early-stage kidney cancer. (22511691)
2012
7
A^A^C-choline and F-18 FDG PET/CT images of hemangioblastoma. (21220983)
2011
8
Gene-environment interaction for childhood asthma and exposure to farming in Central Europe. (21211648)
2011
9
Inhibition of the c-fms proto-oncogene autocrine loop and tumor phenotype in glucocorticoid stimulated human breast carcinoma cells. (21063905)
2011
10
Spatial regulation of cyclic AMP-Epac1 signaling in cell adhesion by ERM proteins. (20855527)
2010
11
Protein interacting with C alpha kinase 1 (PICK1) is involved in promoting tumor growth and correlates with poor prognosis of human breast cancer. (20384629)
2010
12
Role of the colon in short bowel syndrome and intestinal transplantation. (19300130)
2009
13
Amelioration of psoriasis by anti-TNF-alpha RNAi in the xenograft transplantation model. (19568223)
2009
14
Moxifloxacin-associated neutropenia in a cirrhotic elderly woman with lower extremity cellulitis. (18349304)
2008
15
A prospective study of gastric carcinoids and enterochromaffin-like cell changes in multiple endocrine neoplasia type 1 and Zollinger-Ellison syndrome: identification of risk factors. (18270260)
2008
16
Trichotillomania in early childhood--a report of two cases with a peculiar habit. (18950408)
2008
17
Nestin expression as a new marker in malignant peripheral nerve sheath tumors. (17300669)
2007
18
Retinol-binding protein-4 attenuates insulin-induced phosphorylation of IRS1 and ERK1/2 in primary human adipocytes. (17575262)
2007
19
Leukotriene D(4) enhances the function of endothelin-1-primed fibroblasts. (17627891)
2007
20
Apolipoprotein epsilon3 allele is associated with persistent hepatitis C virus infection. (16299033)
2006
21
Meningoencephalitis due to anthrax: CT and MR findings. (16906391)
2006
22
A psychometric evaluation of the DSM-IV pathological gambling diagnostic criteria. (17009124)
2006
23
Depletion of BRCA1 impairs differentiation but enhances proliferation of mammary epithelial cells. (15967981)
2005
24
Phase II study of SU5416, a small molecule vascular endothelial growth factor tyrosine kinase receptor inhibitor, in patients with refractory multiple myeloma. (14734456)
2004
25
Nuclear localization properties of a conserved protuberance in the Sm core complex. (15302587)
2004
26
Nod1 detects a unique muropeptide from gram-negative bacterial peptidoglycan. (12791997)
2003
27
Glial fibrillary tangles in diffuse neurofibrillary tangles with calcification. (12783246)
2003
28
Recent data on the physiology of pain]. (14650754)
2003
29
Human fascioliasis: MR imaging findings of hepatic lesions. (12541122)
2003
30
Ezetimibe in hypercholesterolaemia. (12425372)
2002
31
Cooperativity between the Ras-ERK and Rho-Rho kinase pathways in urokinase-type plasminogen activator-stimulated cell migration. (11805108)
2002
32
Sodium butyrate induces P53-independent, Fas-mediated apoptosis in MCF-7 human breast cancer cells. (11786482)
2002
33
IgE is expressed on, but not produced by, fetal cells in the human placenta irrespective of maternal atopy. (11876750)
2002
34
Duodenal somatostatinoma and erythrocytosis in a patient with von Hippel-Lindau disease type 2A. (11201368)
2001
35
Binswanger's disease is not a single entity. (11441570)
2000
36
Combined assessment of tau and neuronal thread protein in Alzheimer's disease CSF. (10751266)
2000
37
Use of phosphosynapsin I-specific antibodies for image analysis of signal transduction in single nerve terminals. (11017873)
2000
38
Treatment of patients with Paget's disease of bone. (10595863)
1999
39
Transcriptional regulation of the human cytomegalovirus US11 early gene. (9882286)
1999
40
Sensory irritation and multiple chemical sensitivity. (10416286)
1999
41
The B-cell transmembrane protein CD72 binds to and is an in vivo substrate of the protein tyrosine phosphatase SHP-1. (9740800)
1998
42
Extrapulmonary inflammatory myofibroblastic tumor: a clinical and pathological survey. (9606801)
1998
43
Detection of disseminated tumor cells in peripheral blood of colorectal cancer patients. (9355978)
1997
44
Familial occurrence of pulmonary atresia with intact ventricular septum. (9332657)
1997
45
Domains of the human immunodeficiency virus type 1 matrix and gp41 cytoplasmic tail required for envelope incorporation into virions. (8523546)
1996
46
Evaluation of overexpression of p53 tumor suppressor protein in superficial and invasive transitional cell bladder cancer: comparison with DNA ploidy. (7660508)
1995
47
Corticotropin-releasing factor-binding protein. A putative peripheral and central modulator of the CRF family of neuropeptides. (8257004)
1993
48
Ultrastructural, immunochemical, and cytochemical study of myeloperoxidase in myeloid leukemia HL-60 cells following treatment with succinylacetone, an inhibitor of heme biosynthesis. (1321053)
1992
49
Neuropsychological deficits in fetal alcohol syndrome and fetal alcohol effects. (2264592)
1990
50
Congenital sensory neuropathy with anhidrosis: a case report. (1250661)
1976

Variations for Hallermann-Streiff Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Hallermann-Streiff Syndrome:

67
id Symbol AA change Variation ID SNP ID
1GJA1p.Arg76HisVAR_058997

Expression for genes affiliated with Hallermann-Streiff Syndrome

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Search GEO for disease gene expression data for Hallermann-Streiff Syndrome.

Pathways for genes affiliated with Hallermann-Streiff Syndrome

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GO Terms for genes affiliated with Hallermann-Streiff Syndrome

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Biological processes related to Hallermann-Streiff Syndrome according to GeneCards Suite gene sharing:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of glycogen biosynthetic processGO:004572510.0IGF1, IGF2
2response to nutrient levelsGO:00316679.9IGF1, IGF2
3positive regulation of tyrosine phosphorylation of Stat5 proteinGO:00425239.8ERBB4, IGF1
4positive regulation of osteoblast differentiationGO:00456699.8GJA1, IGF1
5cellular response to mechanical stimulusGO:00712609.8GJA1, IGF2
6regulation of calcium ion transportGO:00519249.7GJA1, IGF1
7heart loopingGO:00019479.7GJA1, NOTCH1
8positive regulation of phosphatidylinositol 3-kinase signalingGO:00140689.6ERBB4, IGF1
9regulation of bone mineralizationGO:00305009.6GJA1, OMD
10platelet degranulationGO:00025769.5IGF1, IGF2
11regulation of cell migrationGO:00303349.4ERBB4, NOTCH1
12memoryGO:00076139.4IGF1, IGF2
13heart developmentGO:00075079.0ERBB4, GJA1, NOTCH1
14positive regulation of cell proliferationGO:00082848.3IGF1, IGF2, NOTCH1

Sources for Hallermann-Streiff Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet