MCID: FLT006
MIFTS: 45

Floating-Harbor Syndrome

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases, Bone diseases, Smell/Taste diseases

Aliases & Classifications for Floating-Harbor Syndrome

MalaCards integrated aliases for Floating-Harbor Syndrome:

Name: Floating-Harbor Syndrome 54 23 50 24 25 56 71 29 13 69
Pelletier-Leisti Syndrome 50 25
Flhs 25 71
Fhs 50 25
Short Stature with Delayed Bone Age, Expressive Language Delay, a Triangular Face with a Prominent Nose and Deep-Set Eyes 50
Leisti-Hollander-Rimoin Syndrome 25

Characteristics:

Orphanet epidemiological data:

56
floating-harbor syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
majority of cases are sporadic
facial dysmorphism is age-related and alters substantially over time


HPO:

32
floating-harbor syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Floating-Harbor Syndrome

NIH Rare Diseases : 50 floating-harbor syndrome (fhs) is named after the two hospitals that reported the first cases in the 1970's: boston floating hospital and harbor general hospital in california. signs and symptoms of fhs include short stature, skeletal abnormalities, delayed bone age, characteristic facial features, speech and language problems, and mild to moderate intellectual disability. behavioral difficulties that are present in many children tend to improve with age. fhs is caused by a change (mutation) in the srcap gene. the mutation can be inherited from a parent or can occur for the first time in an affected individual. communication issues and developmental disabilities may be helped with early intervention programs and special education. last updated: 4/29/2016

MalaCards based summary : Floating-Harbor Syndrome, also known as pelletier-leisti syndrome, is related to hyperaldosteronism, familial, type iii and hypercholesterolemia, familial, and has symptoms including short stature, long eyelashes and strabismus. An important gene associated with Floating-Harbor Syndrome is SRCAP (Snf2 Related CREBBP Activator Protein), and among its related pathways/superpathways is Pathways Affected in Adenoid Cystic Carcinoma. Affiliated tissues include bone, eye and heart, and related phenotype is Negative genetic interaction between MUS81-/- and MUS81+/+.

Genetics Home Reference : 25 Floating-Harbor syndrome is a disorder involving short stature, slowing of the mineralization of the bones (delayed bone age), delayed speech development, and characteristic facial features. The condition is named for the hospitals where it was first described, the Boston Floating Hospital and Harbor General Hospital in Torrance, California.

OMIM : 54
Floating-Harbor syndrome is a rare genetic disorder characterized by proportionate short stature, delayed bone age, delayed speech development, and typical facial features. The face is triangular with deep-set eyes, long eyelashes, bulbous nose, wide columella, short philtrum, and thin lips (Lacombe et al., 1995). Rubinstein-Taybi syndrome (see 180849), which shows phenotypic overlap with Floating-Harbor syndrome, is caused by mutation in the CREBBP gene (600140), for which SRCAP is a coactivator. (136140)

UniProtKB/Swiss-Prot : 71 Floating-Harbor syndrome: A rare genetic disorder characterized by proportionate short stature, delayed bone age, delayed speech development, and typical facial features. The face is triangular with deep-set eyes, long eyelashes, bulbous nose, wide columella, short philtrum, and thin lips.

Wikipedia : 72 Floating–Harbor syndrome, also known as Pelletier–Leisti syndrome, is a rare disease with fewer than 50... more...

GeneReviews: NBK114458

Related Diseases for Floating-Harbor Syndrome

Graphical network of the top 20 diseases related to Floating-Harbor Syndrome:



Diseases related to Floating-Harbor Syndrome

Symptoms & Phenotypes for Floating-Harbor Syndrome

Symptoms via clinical synopsis from OMIM:

54

Skin Nails & Hair- Hair:
long eyelashes
hirsutism

Skeletal:
delayed bone age

Head And Neck- Ears:
posteriorly rotated ears
hearing loss, conductive (in some patients)
otitis media, recurrent (rare)

Head And Neck- Neck:
short neck
low posterior hairline

Head And Neck- Face:
triangular face

Cardiovascular- Heart:
atrial septal defect (rare)
mesocardia (rare)

Neurologic- Central Nervous System:
normal motor development
expressive language delay
intellectual impairment, mild (in some patients)

Abdomen- External Features:
umbilical hernia (rare)

Growth- Height:
short stature (-4 to -6 s.d. below mean)

Cardiovascular- Vascular:
aortic coarctation (rare)
persistent left superior vena cava (rare)

Genitourinary- Bladder:
posterior urethral valves (rare)

Head And Neck- Eyes:
long eyelashes
hyperopia (in some patients)
deep-set eyes (in early childhood)
strabismus (rare)

Skeletal- Limbs:
joint laxity

Skeletal- Hands:
fifth finger clinodactyly
cone-shaped epiphyses

Head And Neck- Nose:
prominent nose
smooth philtrum
wide columella

Head And Neck- Mouth:
broad mouth
thin lips
downturned mouth

Genitourinary- External Genitalia Male:
hypospadias (rare)

Genitourinary- Internal Genitalia Male:
cryptorchidism (in some patients)
inguinal hernia (in some patients)
epididymal cysts, bilateral (rare)
varicocele (rare)

Genitourinary- Kidneys:
nephrocalcinosis (rare)
hydronephrosis (rare)
unilateral renal pelviectasis (rare)

Growth- Other:
prenatal onset of short stature

Abdomen- Gastroin testinal:
celiac disease

Laboratory- Abnormalities:
normal endocrinologic studies (growth hormone, somatomedin c, thyroid function)


Clinical features from OMIM:

136140

Human phenotypes related to Floating-Harbor Syndrome:

56 32 (show top 50) (show all 69)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 hallmark (90%) Very frequent (99-80%) HP:0004322
2 long eyelashes 56 32 hallmark (90%) Very frequent (99-80%) HP:0000527
3 strabismus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000486
4 bulbous nose 56 32 hallmark (90%) Very frequent (99-80%) HP:0000414
5 wide mouth 56 32 hallmark (90%) Very frequent (99-80%) HP:0000154
6 intrauterine growth retardation 56 32 frequent (33%) Frequent (79-30%) HP:0001511
7 trigonocephaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0000243
8 posteriorly rotated ears 56 32 hallmark (90%) Very frequent (99-80%) HP:0000358
9 global developmental delay 56 32 frequent (33%) Frequent (79-30%) HP:0001263
10 short neck 56 32 hallmark (90%) Very frequent (99-80%) HP:0000470
11 short philtrum 56 32 hallmark (90%) Very frequent (99-80%) HP:0000322
12 telecanthus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000506
13 intellectual disability 56 32 frequent (33%) Frequent (79-30%) HP:0001249
14 thin vermilion border 56 32 hallmark (90%) Very frequent (99-80%) HP:0000233
15 wide nasal bridge 56 32 hallmark (90%) Very frequent (99-80%) HP:0000431
16 constipation 56 32 frequent (33%) Frequent (79-30%) HP:0002019
17 prominent nose 56 32 hallmark (90%) Very frequent (99-80%) HP:0000448
18 triangular face 56 32 frequent (33%) Frequent (79-30%) HP:0000325
19 malabsorption 56 32 frequent (33%) Frequent (79-30%) HP:0002024
20 joint stiffness 56 32 hallmark (90%) Very frequent (99-80%) HP:0001387
21 joint hyperflexibility 56 32 frequent (33%) Frequent (79-30%) HP:0005692
22 feeding difficulties in infancy 56 32 frequent (33%) Frequent (79-30%) HP:0008872
23 nasal speech 56 32 hallmark (90%) Very frequent (99-80%) HP:0001611
24 delayed skeletal maturation 56 32 hallmark (90%) Very frequent (99-80%) HP:0002750
25 high pitched voice 56 32 hallmark (90%) Very frequent (99-80%) HP:0001620
26 recurrent otitis media 56 32 occasional (7.5%) Frequent (79-30%) HP:0000403
27 short clavicles 56 32 frequent (33%) Frequent (79-30%) HP:0000894
28 expressive language delay 56 32 hallmark (90%) Very frequent (99-80%) HP:0002474
29 enlarged joints 56 32 frequent (33%) Frequent (79-30%) HP:0003037
30 broad thumb 56 32 hallmark (90%) Very frequent (99-80%) HP:0011304
31 generalized hirsutism 56 32 frequent (33%) Frequent (79-30%) HP:0002230
32 broad columella 56 32 hallmark (90%) Very frequent (99-80%) HP:0010761
33 hypoplasia of penis 56 32 occasional (7.5%) Occasional (29-5%) HP:0008736
34 neurological speech impairment 56 32 hallmark (90%) Very frequent (99-80%) HP:0002167
35 abnormality of the fingernails 56 32 occasional (7.5%) Occasional (29-5%) HP:0001231
36 underdeveloped nasal alae 56 32 frequent (33%) Frequent (79-30%) HP:0000430
37 deeply set eye 56 32 frequent (33%) Frequent (79-30%) HP:0000490
38 clinodactyly of the 5th finger 56 32 frequent (33%) Frequent (79-30%) HP:0004209
39 camptodactyly of finger 56 32 frequent (33%) Frequent (79-30%) HP:0100490
40 abnormality of the soft palate 56 32 frequent (33%) Frequent (79-30%) HP:0100736
41 congenital posterior urethral valve 56 32 occasional (7.5%) Occasional (29-5%) HP:0010957
42 congenital pseudoarthrosis of the clavicle 56 32 frequent (33%) Frequent (79-30%) HP:0006585
43 generalized cerebral atrophy/hypoplasia 56 32 occasional (7.5%) Occasional (29-5%) HP:0007058
44 brachydactyly 32 frequent (33%) HP:0001156
45 hirsutism 32 HP:0001007
46 umbilical hernia 32 occasional (7.5%) HP:0001537
47 nephrocalcinosis 32 occasional (7.5%) HP:0000121
48 joint laxity 32 HP:0001388
49 atrial septal defect 32 occasional (7.5%) HP:0001631
50 hypospadias 32 occasional (7.5%) HP:0000047

UMLS symptoms related to Floating-Harbor Syndrome:


joint laxity

GenomeRNAi Phenotypes related to Floating-Harbor Syndrome according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Negative genetic interaction between MUS81-/- and MUS81+/+ GR00255-A-2 8.62 CREBBP SRCAP

Drugs & Therapeutics for Floating-Harbor Syndrome

Search Clinical Trials , NIH Clinical Center for Floating-Harbor Syndrome

Genetic Tests for Floating-Harbor Syndrome

Genetic tests related to Floating-Harbor Syndrome:

id Genetic test Affiliating Genes
1 Floating-Harbor Syndrome 29 24 SRCAP

Anatomical Context for Floating-Harbor Syndrome

MalaCards organs/tissues related to Floating-Harbor Syndrome:

39
Bone, Eye, Heart, Thyroid, Kidney, Spinal Cord

Publications for Floating-Harbor Syndrome

Articles related to Floating-Harbor Syndrome:

(show top 50) (show all 54)
id Title Authors Year
1
Treatment of Moyamoya Disease and Unruptured Intracranial Aneurysm in Floating-Harbor Syndrome. ( 28549641 )
2017
2
Chiari I malformation as part of the Floating-Harbor syndrome? ( 27815143 )
2016
3
The defining DNA methylation signature of Floating-Harbor Syndrome. ( 27934915 )
2016
4
When chromatin organisation floats astray: the Srcap gene and Floating-Harbor syndrome. ( 27208210 )
2016
5
Floating Harbor Syndrome. ( 27206688 )
2016
6
Expanded spectrum of exon 33 and 34 mutations in SRCAP and follow-up in patients with Floating-Harbor syndrome. ( 25433523 )
2014
7
Not all floating-harbor syndrome cases are due to mutations in exon 34 of SRCAP. ( 22965468 )
2013
8
The phenotype of floating-harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP. ( 23621943 )
2013
9
Long-term follow-up study for a patient with Floating-Harbor syndrome due to a hotspot SRCAP mutation. ( 24375913 )
2013
10
Floating-Harbor syndrome: SRCAP mutations are not restricted to exon 34. ( 23763483 )
2013
11
Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome. ( 22265015 )
2012
12
Search for a gene responsible for Floating-Harbor syndrome on chromosome 12q15q21.1. ( 22247066 )
2012
13
Detailed neuropsychological evaluation in a patient with Floating Harbor syndrome. ( 22263687 )
2012
14
Floating-Harbor syndrome and polycystic kidneys associated with SRCAP mutation. ( 23165645 )
2012
15
Clinical and genetic characteristics and effects of long-term growth hormone therapy in a girl with Floating-Harbor syndrome. ( 22570979 )
2012
16
Floating-Harbor Syndrome: report on a case in a mother and daughter, further evidence of autosomal dominant inheritance. ( 21955542 )
2012
17
Growth hormone deficiency: an unusual presentation of floating harbor syndrome. ( 22001135 )
2011
18
Floating-Harbor syndrome associated with middle ear abnormalities. ( 20014123 )
2010
19
The phenotype of Floating-Harbor syndrome in 10 patients. ( 20358590 )
2010
20
Commentary: The second step in syndrome delineation: who belongs and who does not? Thoughts generated by the paper on Floating-Harbor syndrome by White and colleagues. ( 20358589 )
2010
21
Speech-language evaluation and rehabilitation treatment in Floating-Harbor syndrome: a case study. ( 20185146 )
2010
22
Ocular abnormalities in Floating-Harbor syndrome. ( 19393524 )
2009
23
Floating-Harbor syndrome and intramedullary spinal cord ganglioglioma: case report and observations from the literature. ( 19764022 )
2009
24
Ruptured cerebral aneurysm in a patient with Floating-Harbor syndrome. ( 18978661 )
2008
25
Floating-Harbor syndrome: case report. ( 18449141 )
2008
26
Precocious puberty in a girl with floating-harbor syndrome. ( 18341094 )
2007
27
Floating-Harbor syndrome in a Kuwaiti patient: a case report and literature review. ( 17955782 )
2007
28
Thirty-two year follow-up of the first patient reported with the Floating-Harbor syndrome. ( 16523514 )
2006
29
Floating-Harbor syndrome: a first female Turkish patient? ( 17375535 )
2006
30
Floating-Harbor syndrome complicated by tethered cord: a new association and potential contribution from growth hormone therapy. ( 15889416 )
2005
31
The first Finnish patient with the Floating-Harbor syndrome: the follow-up of eight years. ( 15378536 )
2004
32
Floating-Harbor syndrome: case report and craniofacial phenotype characterization. ( 15139957 )
2004
33
First Turkish patient with floating harbor syndrome with additional findings: cryptorchidim and microcephaly. ( 15119008 )
2004
34
A variant example of familial Floating-Harbor syndrome? ( 12725587 )
2003
35
Floating-Harbor syndrome in two sisters: autosomal recessive inheritance or germinal mosaicism? ( 14738118 )
2003
36
Abnormalities of GH secretion in a young girl with Floating-Harbor syndrome. ( 11883867 )
2002
37
Floating-Harbor syndrome in two unrelated girls: mild short stature in one patient and effective growth hormone therapy in the other. ( 11746027 )
2001
38
[Floating-Harbor syndrome: first case in Italy associated with growth hormone deficiency]. ( 11995206 )
2000
39
Changing phenotype in Floating-Harbor syndrome. ( 9508066 )
1998
40
A further report on a case of Floating-Harbor Syndrome in a mother and daughter. ( 9892052 )
1998
41
Floating Harbor syndrome. Case report and further syndrome delineation. ( 9401100 )
1997
42
The Floating-Harbor syndrome: report of another patient and differential diagnosis with Shprintzen syndrome. ( 8831134 )
1996
43
Floating-Harbor syndrome. A neuropsychological approach. ( 8985732 )
1996
44
Two more diagnostic signs in the Floating-Harbor syndrome. ( 8867666 )
1996
45
The Floating-Harbor syndrome: two affected siblings in a family. ( 9001802 )
1996
46
The floating harbor syndrome with cardiac septal defect. ( 8985491 )
1996
47
Floating-Harbor syndrome: description of a further patient, review of the literature, and suggestion of autosomal dominant inheritance. ( 7588969 )
1995
48
Further observations on the Floating-Harbor syndrome. ( 8055134 )
1994
49
Floating-Harbor Syndrome ( 23193612 )
1993
50
The Floating-Harbor syndrome. ( 2029915 )
1991

Variations for Floating-Harbor Syndrome

ClinVar genetic disease variations for Floating-Harbor Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 SRCAP NM_006662.2(SRCAP): c.7330C> T (p.Arg2444Ter) single nucleotide variant Pathogenic rs199469464 GRCh37 Chromosome 16, 30748691: 30748691
2 SRCAP NM_006662.2(SRCAP): c.7303C> T (p.Arg2435Ter) single nucleotide variant Pathogenic rs199469465 GRCh37 Chromosome 16, 30748664: 30748664
3 SRCAP NM_006662.2(SRCAP): c.7549delC (p.Gln2517Lysfs) deletion Pathogenic rs199469466 GRCh38 Chromosome 16, 30737589: 30737589
4 SRCAP NM_006662.2(SRCAP): c.7863dupG (p.Gln2622Alafs) duplication Pathogenic rs587776938 GRCh38 Chromosome 16, 30737903: 30737903
5 SRCAP NM_006662.2(SRCAP): c.7000C> T (p.Gln2334Ter) single nucleotide variant Pathogenic rs587777656 GRCh38 Chromosome 16, 30736616: 30736616
6 SRCAP NM_006662.2(SRCAP): c.7993C> T (p.Gln2665Ter) single nucleotide variant Pathogenic rs587784444 GRCh37 Chromosome 16, 30749354: 30749354

Expression for Floating-Harbor Syndrome

Search GEO for disease gene expression data for Floating-Harbor Syndrome.

Pathways for Floating-Harbor Syndrome

Pathways related to Floating-Harbor Syndrome according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 10.44 CREBBP SRCAP

GO Terms for Floating-Harbor Syndrome

Cellular components related to Floating-Harbor Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 nuclear body GO:0016604 8.62 CREBBP SRCAP

Biological processes related to Floating-Harbor Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 viral process GO:0016032 8.96 CREBBP SRCAP
2 histone acetylation GO:0016573 8.62 CREBBP SRCAP

Molecular functions related to Floating-Harbor Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 transcription coactivator activity GO:0003713 8.96 CREBBP SRCAP
2 histone acetyltransferase activity GO:0004402 8.62 CREBBP SRCAP

Sources for Floating-Harbor Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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