Gene Summary

Name:
RAB, member RAS oncogene family-like 2
Synonyms:
Rabl2a,  1110031N17Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased bone mineral content Rabl2tm1.1(KOMP)Wtsi HOM Early adult 9.98×10-10
decreased bone mineral density Rabl2tm1.1(KOMP)Wtsi HOM Early adult 2.14×10-06
small testis Rabl2tm1.1(KOMP)Wtsi HOM Early adult 0.00
abnormal autopod morphology Rabl2tm1.1(KOMP)Wtsi HOM Early adult 1.55×10-18
increased circulating insulin level Rabl2tm1.1(KOMP)Wtsi HOM Early adult 1.70×10-09
increased startle reflex Rabl2tm1.1(KOMP)Wtsi HOM   Early adult 3.97×10-05
decreased lean body mass Rabl2tm1.1(KOMP)Wtsi HOM Early adult 2.35×10-09
abnormal testis morphology Rabl2tm1.1(KOMP)Wtsi HOM Early adult 0.00
abnormal digit morphology Rabl2tm1.1(KOMP)Wtsi HOM   Early adult 6.91×10-19
abnormal nail morphology Rabl2tm1.1(KOMP)Wtsi HOM Early adult 1.55×10-18
impaired glucose tolerance Rabl2tm1.1(KOMP)Wtsi HOM Early adult 1.37×10-07
eye hemorrhage Rabl2tm1.1(KOMP)Wtsi HOM Early adult 3.40×10-08
increased respiratory quotient Rabl2tm1.1(KOMP)Wtsi HOM   Early adult 0.00
increased total body fat amount Rabl2tm1.1(KOMP)Wtsi HOM Early adult 1.44×10-07
increased liver weight Rabl2tm1.1(KOMP)Wtsi HOM   Early adult 4.48×10-05
female infertility Rabl2tm1.1(KOMP)Wtsi HOM Early adult 0.00

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lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Wholemount images  Section images heterozygote 100% (4 of 4)
Aorta  Section images heterozygote 25% (1 of 4)
Brain  Wholemount images heterozygote 100% (4 of 4)
Cerebellum  Wholemount images  Section images heterozygote 75% (3 of 4)
Colon  Section images heterozygote 75% (3 of 4)
Duodenum  Section images heterozygote 25% (1 of 4)
Epididymis  Section images heterozygote 50% (2 of 4)
Eye  Section images heterozygote 25% (1 of 4)
Harderian gland  Section images heterozygote 25% (1 of 4)
Ileum  Section images heterozygote 25% (1 of 4)
Kidney  Wholemount images  Section images heterozygote 100% (4 of 4)
Lung  Wholemount images  Section images heterozygote 100% (4 of 4)
Midbrain  Wholemount images  Section images heterozygote 75% (3 of 4)
Olfactory lobe  Wholemount images  Section images heterozygote 75% (3 of 4)
Oviduct  Wholemount images  Section images heterozygote 50% (2 of 4)
Penis  Section images heterozygote 25% (1 of 4)
Pituitary gland  Wholemount images  Section images heterozygote 100% (4 of 4)
Prostate gland  Section images heterozygote 50% (2 of 4)
Spinal cord  Wholemount images  Section images heterozygote 100% (4 of 4)
Stomach  Section images heterozygote 100% (4 of 4)
Testis  Wholemount images  Section images heterozygote 50% (2 of 4)
Trachea  Wholemount images  Section images heterozygote 75% (3 of 4)
Trigeminal V nerve  Section images heterozygote 50% (2 of 4)
Urinary bladder  Section images heterozygote 25% (1 of 4)
Uterus  Section images heterozygote 50% (2 of 4)
Vagina  Section images heterozygote 25% (1 of 4)
Blood N/A heterozygote 0.0% (0 of 4)
Bone marrow N/A heterozygote 0.0% (0 of 4)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 4)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 50% (2 of 4)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Diaphragm N/A heterozygote 0.0% (0 of 4)
Esophagus N/A heterozygote 0.0% (0 of 4)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 4)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Jejunum N/A heterozygote 0.0% (0 of 4)
Large intestine N/A heterozygote 75% (3 of 4)
Liver N/A heterozygote 0.0% (0 of 4)
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 4)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 4)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 4)
Ovary N/A heterozygote 0.0% (0 of 4)
Pancreas N/A heterozygote 0.0% (0 of 4)
Parathyroid gland N/A heterozygote 0.0% (0 of 4)
Parotid gland N/A heterozygote 0.0% (0 of 4)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Quadriceps N/A heterozygote 0.0% (0 of 4)
Sciatic nerve N/A heterozygote 0.0% (0 of 4)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 4)
Small intestine N/A heterozygote 25% (1 of 4)
Spleen N/A heterozygote 0.0% (0 of 4)
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 4)
Submandibular gland N/A heterozygote 0.0% (0 of 4)
Thymus N/A heterozygote 0.0% (0 of 4)
Thyroid gland N/A heterozygote 0.0% (0 of 4)
Tongue N/A heterozygote 0.0% (0 of 4)
Vas deferens N/A heterozygote 25% (1 of 4)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 4)
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
blood 0.0%
bone marrow 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cecum 5.73% (22 of 384)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
chest bone Unavailable
colon 15.71% (22 of 140)
diaphragm 0.0%
duodenum 3.57% (5 of 140)
epididymis 14.29% (21 of 147)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.71% (1 of 140)
heart 0.33% (2 of 598)
hindlimb 0.0%
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
ileum 14.29% (20 of 140)
jejunum 8.57% (12 of 140)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.31% (1 of 323)
midbrain 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
stomach pyloric region 0.0%
striatum 0.5% (3 of 598)
sublingual gland 0.0%
submandibular gland 1.38% (2 of 145)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
tongue 3.57% (5 of 140)
trachea 0.5% (3 of 598)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.33% (2 of 598)
vagina 0.0%
vas deferens 4.56% (18 of 395)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Forepaw

11 Images

Adult LacZ

LacZ Images Section

67 Images

X-ray

XRay Images Hind Leg and Hip

17 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Adult LacZ

LacZ Images Wholemount

16 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Rabl2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Rabl2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spermatogenic Failure 63
Reduced progressive sperm motility, Oligospermia, Decreased testicular size, Male infertility OMIM:619689
Spermatogenic Failure 56
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619515
Spermatogenic Failure 65
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619712
Spermatogenic Failure 58
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... OMIM:619585
Spermatogenic Failure, X-Linked, 3
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... OMIM:301059
Spermatogenic Failure 40
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... OMIM:618664
Spermatogenic Failure 47
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella OMIM:619102
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Spermatogenic Failure 54
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... OMIM:619379
Spermatogenic Failure 39
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... OMIM:618643
Spermatogenic Failure 41
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... ORPHA:529970
Spermatogenic Failure 72
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... OMIM:619867
Spermatogenic Failure 46
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... OMIM:619095
Spermatogenic Failure 64
Reduced progressive sperm motility, Oligospermia, Abnormal sperm head morphology, Male infertility OMIM:619696
Spermatogenic Failure 43
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... OMIM:618751
Spermatogenic Failure 49
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619144
Spermatogenic Failure 45
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619094
Partial Chromosome Y Deletion
Oligospermia, Non-obstructive azoospermia, Male infertility, Abnormal spermatogenesis, Decreased ... ORPHA:1646
Spermatogenic Failure 70
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility OMIM:619828
Spermatogenic Failure 51
Microcephalic sperm head, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm mot... OMIM:619177
Spermatogenic Failure 1
Cryptozoospermia, Oligospermia, Male infertility OMIM:258150
Spermatogenic Failure 42
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... OMIM:618745
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility OMIM:619108
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Spermatogenic Failure 20
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Spermatogenic Failure 17
Infertility OMIM:617214
Oocyte Maturation Defect 3
Infertility OMIM:617712
Spermatogenic Failure 27
Infertility OMIM:617965
Oocyte Maturation Defect 5
Infertility OMIM:617996
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Immotile sperm, Abnormal sperm morphology OMIM:608653
Spermatogenic Failure 57
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 25
Azoospermia, Cryptozoospermia, Decreased testicular size OMIM:617960
Spermatogenic Failure 24
Coiled sperm flagella, Microcephalic sperm head, Reduced sperm motility, Short sperm flagella, Ta... OMIM:617959
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size OMIM:619145
Spermatogenic Failure 18
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617576
Spermatogenic Failure 19
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617592
Spermatogenic Failure 35
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618153
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Spermatogenic Failure 38
Coiled sperm flagella, Reduced sperm motility, Abnormal axonemal organization of respiratory moti... OMIM:618433
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619672
Spermatogenic Failure 10
Infertility, Abnormal sperm morphology OMIM:614822
Spermatogenic Failure 73
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619937
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... OMIM:611102
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 5
Male infertility, Macrocephalic sperm head, Multiflagellar spermatozoa OMIM:243060
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Isochromosomy Yp
Ambiguous genitalia, Male infertility, Decreased testicular size, Primary gonadal insufficiency, ... ORPHA:98797
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Preimplantation Embryonic Lethality 2
Infertility OMIM:617234
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Nondisjunction
Decreased fertility OMIM:158250
Isochromosomy Yq
Ambiguous genitalia, Varicocele, Male infertility, Decreased testicular size, Primary gonadal ins... ORPHA:98798
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Spermatogenic Failure 32
Azoospermia, Infertility OMIM:618115
Spermatogenic Failure 23
Azoospermia, Infertility OMIM:617707
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Spermatogenic Failure, X-Linked, 2
Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Hydatidiform Mole, Recurrent, 3
Infertility OMIM:618431
Spermatogenic Failure 2
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... OMIM:108420
Persistent Mullerian Duct Syndrome, Types I And Ii
Decreased antimullerian hormone level, Bilateral cryptorchidism, Male infertility OMIM:261550
Spermatogenic Failure 6
Globozoospermia, Male infertility, Decreased acrosin in sperm head OMIM:102530
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatoge... ORPHA:399808
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal spermatogenesis, Decreased testicular size, Azoospermia, In... ORPHA:399805
Oocyte Maturation Defect 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte Maturation Defect 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility ORPHA:48
Female Infertility Due To Oocyte Meiotic Arrest
Oocyte arrest at metaphase I, Female infertility, Abnormal meiosis ORPHA:488191
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Familial Male-Limited Precocious Puberty
Precocious puberty, Oligospermia, Long penis, Male infertility, Macroorchidism ORPHA:3000
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia, Spermatocele OMIM:301060
Plin1-Related Familial Partial Lipodystrophy
Reduced subcutaneous adipose tissue, Infertility, Hyperinsulinemia, Lipoatrophy, Loss of gluteal ... ORPHA:280356
Spinocerebellar Ataxia Type 32
Azoospermia, Testicular atrophy, Male infertility ORPHA:276183
Spermatogenic Failure 15
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... OMIM:616950
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Decreased serum testosterone concentration, Delayed menarche, Hypogonadotropi... ORPHA:52901
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Azoospermia, Male hypogonadism OMIM:241000
Oocyte Maturation Defect 11
Female infertility OMIM:619643
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Oocyte Maturation Defect 1
Female infertility OMIM:615774
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Congenital Generalized Lipodystrophy
Hypertrichosis, Bone cyst, Hyperinsulinemia, Hepatomegaly, Lipodystrophy, Clitoral hypertrophy, P... ORPHA:528
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Lipoatrophy, Pancreatitis, Hepatomegaly, Insulin resistance, Diabetes mellitus,... ORPHA:79084
Lipodystrophy, Familial Partial, Type 3
Reduced subcutaneous adipose tissue, Hirsutism, Hyperinsulinemia, Type II diabetes mellitus, Insu... OMIM:604367
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Male infertility, Absent vas deferens OMIM:277180
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Female infertility, Ambiguous genitalia, female, Ambiguous genitalia, m... ORPHA:261529
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Short toe, Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Brachydac... ORPHA:3085
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Low anterior hairline, Hyperinsulinemic hypoglycemia, Primary amenorrhea, Osteoporosis, Joint lax... OMIM:616033
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Hand tremor, Hypoketotic hypoglycemia, ... ORPHA:79299
Hyperinsulinism Due To Hnf1A Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Small for gestational age, Excessi... ORPHA:324575
Morbid Obesity And Spermatogenic Failure
Infertility, Oligospermia, Azoospermia, Type II diabetes mellitus OMIM:615703
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Excessive insulin response to gluc... ORPHA:276580
Estrogen Resistance
Glucose intolerance, Hyperinsulinemia, Hypoplasia of the uterus, Osteopenia, Primary amenorrhea, ... OMIM:615363
Short Stature, Dauber-Argente Type
Decreased fibular diameter, Reduced bone mineral density, Arachnodactyly, Osteopenia, Long finger... OMIM:619489
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyp... OMIM:601820
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... ORPHA:71526
Spermatogenic Failure 28
Azoospermia, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimul... OMIM:618086
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circul... OMIM:229070
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Excessive insulin response to gluc... ORPHA:276575
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypo... OMIM:256450
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Spermatogenic Failure, X-Linked, 4
Decreased serum testosterone concentration, Abnormal prolactin level, Elevated circulating lutein... OMIM:301077
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... ORPHA:411593
Aromatase Deficiency
Delayed epiphyseal ossification, Generalized hirsutism, Female infertility, Ambiguous genitalia, ... ORPHA:91
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Tachycardia, Reactive ... ORPHA:276608
Hemochromatosis, Type 1
Amenorrhea, Glucose intolerance, Testicular atrophy, Impotence, Hepatomegaly, Alopecia, Splenomeg... OMIM:235200
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Generalized hirsutism, Hyperinsulinemia, Reduced intraabdomi... ORPHA:363400
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus, Childhood-onset truncal obesity, Increased adipose t... ORPHA:71529
Kennedy Disease
Testicular atrophy, Erectile dysfunction, Type II diabetes mellitus, Decreased fertility ORPHA:481
Estrogen Resistance Syndrome
Delayed epiphyseal ossification, Glucose intolerance, Hyperinsulinemia, Hypoplasia of the uterus,... ORPHA:785
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Increased hepatic glycogen content, Hypoketotic hypog... ORPHA:293964
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Hepatomegaly, Lipodystrophy, Clitoral hype... OMIM:608594
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr... ORPHA:263458
Oocyte Maturation Defect 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Premature Ovarian Failure 10
Hypoplasia of the ovary, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypo... OMIM:612885
Retinitis Pigmentosa
Type II diabetes mellitus, Hyperinsulinemia, Hypoplasia of penis, Hypogonadism, Atypical scarring... ORPHA:791
Insulinomatosis And Diabetes Mellitus
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... OMIM:147630
Obesity Due To Congenital Leptin Deficiency
Hypoplasia of the ovary, Decreased serum testosterone concentration, Hyperinsulinemia, Hypergonad... ORPHA:66628
Kaposiform Lymphangiomatosis
Abnormality of femur morphology, Bruising susceptibility, Metrorrhagia, Abnormal bleeding, Fractu... ORPHA:464329
Young Syndrome
Azoospermia OMIM:279000
Hypogonadism-Cataract Syndrome
Infertility, Elevated circulating follicle stimulating hormone level, Male hypogonadism, Hypogona... OMIM:240950
Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609975
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Hepatomegaly, Lipodystrophy, Clitoral hype... OMIM:269700
Perlman Syndrome
Abnormal pancreas morphology, Hyperinsulinemia, Hypoplasia of penis, Inguinal hernia, Hepatomegal... ORPHA:2849
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Gonadotr... OMIM:614837
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... ORPHA:179494
Adrenal Hypoplasia, Congenital
Adrenal insufficiency, Decreased circulating aldosterone level, Precocious puberty, Decreased cir... OMIM:300200
Ciliary Dyskinesia, Primary, 34
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... OMIM:617091
Symptomatic Form Of Hemochromatosis Type 1
Testicular atrophy, Cholangiocarcinoma, Hepatomegaly, Erectile dysfunction, Chronic hepatic failu... ORPHA:465508
Mandibuloacral Dysplasia With Type A Lipodystrophy
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Hepatomegaly, Alopecia, Osteopenia, Down-s... OMIM:248370
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... ORPHA:983
Body Mass Index Quantitative Trait Locus 20
Obesity, Hyperinsulinemia, Increased bone mineral density OMIM:618406
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... OMIM:619326
Hyperinsulinism Due To Ucp2 Deficiency
Hyperinsulinemic hypoglycemia, Hepatomegaly, Excessive insulin response to glucagon test, Hypoket... ORPHA:276556
Premature Ovarian Failure 19
Irregular menstruation, Secondary amenorrhea, Female infertility, Premature ovarian insufficiency OMIM:619245
Lipodystrophy, Familial Partial, Type 2
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hirsutism, Hyperin... OMIM:151660
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Short clavicles, Hyperinsulinemia, Sparse hair, Flexion contracture, Alopeci... OMIM:608612
Acquired Generalized Lipodystrophy
Generalized hirsutism, Hyperinsulinemia, Hepatomegaly, Insulin resistance, Cirrhosis, Generalized... ORPHA:79086
Hyperinsulinism Due To Hnf4A Deficiency
Hypophosphatemic rickets, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Increase... ORPHA:263455
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Hypertrichosis, Precocious puberty, Hyperinsulinemia, Small for gesta... OMIM:262190
Mandibuloacral Dysplasia
Glucose intolerance, Short clavicles, Hyperinsulinemia, Increased adipose tissue around the neck,... ORPHA:2457
Donohue Syndrome
Postprandial hyperglycemia, Hypertrichosis, Hyperinsulinemia, Precocious puberty, Severe failure ... OMIM:246200
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Androgen Insensitivity, Partial
Infertility, Bifid scrotum, Micropenis, Male pseudohermaphroditism, Absent vas deferens, Hypogona... OMIM:312300
Oocyte Maturation Defect 12
Female infertility OMIM:619697
Oocyte Maturation Defect 10
Female infertility OMIM:619176
Bangstad Syndrome
Hyperinsulinemia, Increased circulating cortisol level, Abnormality of the parathyroid gland, Dev... ORPHA:1227
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Prader-Willi Syndrome
Hyperinsulinemia, External genital hypoplasia, Osteopenia, Primary amenorrhea, Clitoral hypoplasi... OMIM:176270
Functioning Gonadotropic Adenoma
Impotence, Ovarian cyst, Central diabetes insipidus, Pituitary gonadotropic cell adenoma, Enlarge... ORPHA:91348
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Insulinoma
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... ORPHA:97279
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Failure to thrive, Hyperinsulinemia OMIM:606528
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Sudden cardiac death, Gout, Osteoporosis, Impaired glucose tolerance, Myocar... OMIM:610947
Alstrom Syndrome
Hyperinsulinemia, Hepatomegaly, Decreased response to growth hormone stimulation test, Chronic ac... OMIM:203800
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Hypotension, Postural hypotension with compensatory tachyc... ORPHA:369873
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
Hyperinsulinemic Hypoglycemia, Familial, 6
Failure to thrive, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Hypo... OMIM:606762
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Immotile sperm OMIM:614874
Galactokinase Deficiency
Failure to thrive, Hyperinsulinemia, Hepatomegaly, Small for gestational age, Hypergonadotropic h... ORPHA:79237
Autosomal Recessive Spastic Paraplegia Type 46
Infertility, Reduced sperm motility, Decreased testicular size, Abnormal sperm head morphology, A... ORPHA:320391
Androgen Insensitivity Syndrome
Ambiguous genitalia, male, Male pseudohermaphroditism, Aplasia/hypoplasia of the uterus, Testicul... ORPHA:754
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Absent vas deferens OMIM:300985
Retinopathy Of Prematurity
Vitreous hemorrhage, Small for gestational age ORPHA:90050
47,Xyy Syndrome
Increased serum testosterone level, Cryptorchidism, Micropenis, Hypospadias, Oligospermia, Varico... ORPHA:8
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy, Clinodactyly of the 5th finger, Congenital diaphragmatic hernia, Syndactyly, ... OMIM:601163
Atypical Werner Syndrome
Telangiectasia of the skin, Hyperinsulinemia, Ovarian neoplasm, Alopecia, Finger clinodactyly, Gl... ORPHA:79474
Woodhouse-Sakati Syndrome
Hyperinsulinemia, Streak ovary, Alopecia, Osteopenia, Hypogonadism, Hypoplasia of the uterus, Dec... ORPHA:3464
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Alopecia, Glycosuria, Abnormality of circulating leptin level, Polycystic ovari... ORPHA:2298
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Infertility, Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Abnormality of the urethr... ORPHA:752
Prolactin Deficiency, Isolated
Infertility, Irregular menstruation OMIM:264110
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Testicular microlithiasis, Micropenis, Ovarian cyst, ... OMIM:228300
Crimean-Congo Hemorrhagic Fever
Melena, Hemoperitoneum, Subdural hemorrhage, Hepatomegaly, Hepatic failure, Hemothorax, Myocardit... ORPHA:99827
Lipodystrophy, Congenital Generalized, Type 4
Failure to thrive, Hirsutism, Hyperinsulinemia, Hepatomegaly, Flexion contracture, Splenomegaly, ... OMIM:613327
Classic Galactosemia
Action tremor, Hepatomegaly, Reduced bone mineral density, Postural tremor, Hepatic failure, Olig... ORPHA:79239
Transient Neonatal Diabetes Mellitus
Failure to thrive, Hypoinsulinemia, Small for gestational age, Maturity-onset diabetes of the you... ORPHA:99886
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Purpura, Vitreous hemorrhage, Pulmonary embolism OMIM:612304
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum testosterone concentration, Micropenis, Decreased circulating follicle stimulatin... OMIM:614897
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hip contracture, Melena, Vitreous hemorrhage, Abnormality of the liver, Cerebral hemorrhage, Hema... ORPHA:464321
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Ciliary Dyskinesia, Primary, 14
Immotile sperm, Reduced sperm motility, Absent inner dynein arms, Abnormal axonemal organization ... OMIM:613807
Partial Androgen Insensitivity Syndrome
Abnormal circulating estrogen level, Blind vagina, Primary amenorrhea, Ambiguous genitalia, Clito... ORPHA:90797
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligospermia OMIM:314300
Mody
Glucose intolerance, Exocrine pancreatic insufficiency, Abnormal circulating insulin concentratio... ORPHA:552
Premature Ovarian Failure 6
Female infertility, Hypoplasia of the uterus, Streak ovary, Elevated circulating luteinizing horm... OMIM:612310
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hirsutism, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, P... OMIM:612526
Mpi-Cdg
Failure to thrive, Decreased liver function, Hyperinsulinemic hypoglycemia, Hepatomegaly, Hypothy... ORPHA:79319
Retinal Capillary Malformation
Vitreous hemorrhage, Hyphema ORPHA:71213
Ciliary Dyskinesia, Primary, 12
Abnormal central microtubular pair morphology of respiratory motile cilia, Immotile sperm, Reduce... OMIM:612650
Hyperinsulinism-Hyperammonemia Syndrome
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia ORPHA:35878
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia ORPHA:329249
Aarskog-Scott Syndrome
Testicular atrophy, Single transverse palmar crease, Shawl scrotum, Widow's peak, Bilateral crypt... OMIM:305400
Hemochromatosis, Type 4
Glucose intolerance, Impotence, Hepatomegaly, Cirrhosis, Osteoarthritis, Arrhythmia, Impaired glu... OMIM:606069
46,Xy Partial Gonadal Dysgenesis
Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h... ORPHA:251510
Ciliary Dyskinesia, Primary, 26
Infertility, Absent outer dynein arms, Reduced sperm motility OMIM:615500
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Decreased fertility in males, Decreased circulating androgen concentration, Hypergonadotropic hyp... ORPHA:90796
Ciliary Dyskinesia With Defective Radial Spokes
Immotile sperm, Absent respiratory ciliary axoneme radial spokes OMIM:242670
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Glucose intolerance, Failure to thrive, Clinodactyly of the 5th finger, Intention tremor, Tapered... OMIM:614407
Lipe-Related Familial Partial Lipodystrophy
Increased adipose tissue around the neck, Hepatomegaly, Insulin resistance, Loss of gluteal subcu... ORPHA:435660
Pituitary Dermoid And Epidermoid Cysts
Amenorrhea, Enlarged pituitary gland, Panhypopituitarism, Oligomenorrhea, Oligospermia, Anterior ... ORPHA:91351
Rabson-Mendenhall Syndrome
Reduced subcutaneous adipose tissue, Hypertrichosis, Long penis, Clitoral hypertrophy, Precocious... ORPHA:769
Ciliary Dyskinesia, Primary, 11
Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility OMIM:612649
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Decreased serum testosterone concentration, Leydig cell insensitivity to gona... OMIM:308700
Hemochromatosis, Type 2A
Amenorrhea, Infertility, Hypogonadotropic hypogonadism, Azoospermia OMIM:602390
Premature Ovarian Failure 13
Amenorrhea, Female infertility, Hypoplasia of the uterus, Oligomenorrhea, Elevated circulating fo... OMIM:617442
Spondylometaphyseal Dysplasia, Axial
Reduced sperm motility OMIM:602271
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hypergonadotropic hypogonadism, Azoospermia OMIM:613724
Polyendocrine-Polyneuropathy Syndrome
Type II diabetes mellitus, Decreased serum testosterone concentration, Hypoinsulinemia, Alopecia,... ORPHA:453533
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Obesity, Hyperinsulinemia, Increased serum leptin OMIM:617885
Complete Androgen Insensitivity Syndrome
Increased serum testosterone level, Blind vagina, Increased antimullerian hormone level, Abnormal... ORPHA:99429
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... ORPHA:79644
Turner Syndrome Due To Structural X Chromosome Anomalies
Female infertility, Hyperinsulinemia, Short sternum, Alopecia, Osteopenia, Primary amenorrhea, Ir... ORPHA:99413
Turner Syndrome
Female infertility, Hyperinsulinemia, Short sternum, Alopecia, Osteopenia, Primary amenorrhea, Ir... ORPHA:881
Mosaic Monosomy X
Female infertility, Hyperinsulinemia, Short sternum, Alopecia, Osteopenia, Primary amenorrhea, Ir... ORPHA:99228
Monosomy X
Female infertility, Hyperinsulinemia, Short sternum, Alopecia, Osteopenia, Primary amenorrhea, Ir... ORPHA:99226
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Splenomegaly, Short 5th metacarpal ORPHA:66518
Leprechaunism
Reduced subcutaneous adipose tissue, Hypertrichosis, Hyperinsulinemia, Hepatomegaly, Facial hyper... ORPHA:508
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Blind vagina, Ovarian cyst, Decreased circulating cortisol level, Primary amenorrhea, Abnormal re... ORPHA:90793
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Supraventricular arrhythmia, Reduced subcutaneous adipose tissue, Pancreatitis, Hepatomegaly, Acr... ORPHA:280365
Primary Pigmented Nodular Adrenocortical Disease
Alopecia, Abnormal libido, Increased body weight, Dorsocervical fat pad, Abnormal subcutaneous fa... ORPHA:189439
Lujo Hemorrhagic Fever
Excessive bleeding after a venipuncture, Resting tremor, Fulminant hepatitis, Myocarditis, Hypote... ORPHA:319213
Ciliary Dyskinesia, Primary, 15
Infertility, Abnormal axonemal organization of respiratory motile cilia, Immotile sperm OMIM:613808
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Insulin resistance, Oligomenorrhea, Decreased serum leptin, Lipodystrophy, Increase... ORPHA:79085
Premature Ovarian Failure 20
Elevated circulating follicle stimulating hormone level, Secondary amenorrhea, Female infertility... OMIM:619938
Generalized Glucocorticoid Resistance Syndrome
Infertility, Decreased circulating aldosterone level, Precocious puberty, Increased circulating c... ORPHA:786
Retinoschisis 1, X-Linked, Juvenile
Vitreous hemorrhage OMIM:312700
X-Linked Acrogigantism
Increased circulating insulin-like growth factor 1 concentration, Decreased thyroid-stimulating h... ORPHA:300373
Exudative Vitreoretinopathy 4
Osteopenia, Vitreous hemorrhage OMIM:601813
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Hyperinsulinemic hypoglycemia, Hepatomegaly, Hepatic failure, Abnormal bleedin... OMIM:602579
Multiple Endocrine Neoplasia Type 4
Pituitary growth hormone cell adenoma, Thymoma, Elevated circulating parathyroid hormone level, N... ORPHA:276152
Marburg Hemorrhagic Fever
Petechiae, Orchitis, Excessive bleeding after a venipuncture, Bruising susceptibility, Pancreatit... ORPHA:99826
46,Xx Sex Reversal 2
Sex reversal, Hypoplasia of the uterus, Decreased serum testosterone concentration, Bifid scrotum... OMIM:278850
Kallmann Syndrome With Spastic Paraplegia
Testicular atrophy, Leydig cell insensitivity to gonadotropin, Eunuchoid habitus, Micropenis, Hyp... OMIM:308750
Normosmic Congenital Hypogonadotropic Hypogonadism
Increased female libido, Impotence, Hypoplasia of the ovary, Hypoplasia of the uterus, Decreased ... ORPHA:432
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Alopecia, Neuroendocrine neoplasm, Abnormal libido, Increased body weight, Macronodular adrenal h... ORPHA:189427
Ciliary Dyskinesia, Primary, 22
Infertility, Absent inner and outer dynein arms, Reduced sperm motility OMIM:615444
Cidec-Related Familial Partial Lipodystrophy
Pancreatitis, Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Oligomenorrhea, Hepatic ... ORPHA:435651
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Failure to thrive, Hyperinsulinemic hypoglycemia, Acute hepatic failure, Hypoketotic hypoglycemia... ORPHA:71212
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Diabetic ketoacidosis, Irregular menstruation, Decreased serum leptin, Lipodystroph... OMIM:615238
Hemorrhagic Fever-Renal Syndrome
Melena, Petechiae, Decreased body weight, Hematemesis, Palpitations, Tachycardia, Intracranial he... ORPHA:340
Lead Poisoning
Infertility, Decreased male libido, Reduced sperm motility, Oligospermia, Abnormality of the mens... ORPHA:330015
46,Xx Sex Reversal 1
Sex reversal, Bicornuate uterus, Hypospadias, Elevated circulating luteinizing hormone level, Ovo... OMIM:400045
African Iron Overload
Abnormal pancreas morphology, Hepatomegaly, Micronodular cirrhosis, Viral hepatitis, Increased ci... ORPHA:139507
Wolfram Syndrome 1
Testicular atrophy, Limited mobility of proximal interphalangeal joint, Hypothyroidism, Tremor, D... OMIM:222300
Ciliary Dyskinesia, Primary, 9
Male infertility, Absent outer dynein arms OMIM:612444
Non-Functioning Pituitary Adenoma
Impotence, Decreased fertility in males, Central adrenal insufficiency, Erectile dysfunction, Hyp... ORPHA:91349
Solitary Fibrous Tumor/Hemangiopericytoma
Hypophosphatemic rickets, Neoplasm of the liver, Uterine neoplasm, Hypoinsulinemia, Prostate canc... ORPHA:2126
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Congenital hypoparathyroidism, Male infertility, Parathyroid agenesis ORPHA:2239
Prolactinoma
Impotence, Dyspareunia, Decreased fertility in males, Central adrenal insufficiency, Osteopenia, ... ORPHA:2965
Ovarian Dysgenesis 3
Female infertility, Elevated circulating follicle stimulating hormone level, Elevated circulating... OMIM:614324
Familial Exudative Vitreoretinopathy
Macular telangiectasia, Vitreous hemorrhage, Retinal neovascularization, Reduced bone mineral den... ORPHA:891
Familial Acute Necrotizing Encephalopathy
Choroid hemorrhage ORPHA:88619
Myotonic Dystrophy 1
Cholelithiasis, Testicular atrophy, Frontal balding, Hypogonadism, Atrial fibrillation, Atrial fl... OMIM:160900
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Vitreous hemorrhage, Peripheral retinal neovascularization OMIM:193235
Myotonic Dystrophy 2
Oligospermia, Elevated circulating follicle stimulating hormone level, Type II diabetes mellitus,... OMIM:602668
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Ambiguous genitalia, female, Decreased fertility in males, Decreased circulating cortisol level, ... ORPHA:90791
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Orthostatic hypotension, Syncope, Hypoglycemia, Orthostatic syncope, Retrograde... ORPHA:230
Steinert Myotonic Dystrophy
Cholelithiasis, Testicular atrophy, Impotence, Hyperinsulinemia, Alopecia, Hypergonadotropic hypo... ORPHA:273
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Reduced progressive sperm motility OMIM:619608
Eales Disease
Vitreous hemorrhage, Peripheral retinal neovascularization, Transient ischemic attack, Ischemic s... ORPHA:40923
Hereditary Amyloidosis With Primary Renal Involvement
Oligospermia, Male infertility, Hypogonadism, Abnormal testis morphology, Primary testicular failure ORPHA:85450
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Ciliary Dyskinesia, Primary, 5
Reduced sperm motility OMIM:608647
Exudative Vitreoretinopathy 1
Recurrent fractures, Vitreous hemorrhage, Retinal neovascularization OMIM:133780
Tsh-Secreting Pituitary Adenoma
Supraventricular arrhythmia, Impotence, Decreased fertility in males, Central adrenal insufficien... ORPHA:91347
Ciliary Dyskinesia, Primary, 19
Male infertility, Absent inner and outer dynein arms OMIM:614935
Retinal Venous Beading
Vitreous hemorrhage, Retinal neovascularization OMIM:180080
Pituitary Adenoma 4, Acth-Secreting
Abdominal obesity, Glucose intolerance, Hirsutism, Pituitary adenoma, Bruising susceptibility, In... OMIM:219090
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Cryptorchidism, Micropenis, Small for gestational age, Hypospadias, Dec... ORPHA:1916
Blepharophimosis, Ptosis, And Epicanthus Inversus
Amenorrhea, Female infertility, Hypoplasia of the uterus, Irregular menstruation, Sparse pubic ha... OMIM:110100
Leptospirosis
Hepatomegaly, Pulmonary hemorrhage, Arrhythmia, Retinal hemorrhage, Hypotension, Hepatitis, Eleva... ORPHA:509
Glycine Encephalopathy With Normal Serum Glycine
Hip contracture, Overlapping toe, Talipes equinovarus, Exaggerated startle response, Flexion cont... OMIM:617301
Gapo Syndrome
Amenorrhea, Oligospermia, Dysmenorrhea, Hypogonadism ORPHA:2067
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Hydrocele testis, Broad hallux, Genu valgum, Calcaneovalgus deformity, Hyphema, Chordee, Long hal... ORPHA:261552
Incontinentia Pigmenti
Abnormal dental enamel morphology, Absent hand, Telangiectasia of the skin, Supernumerary nipple,... ORPHA:464
Primary Ciliary Dyskinesia
Female infertility, Male infertility, Polysplenia, Abnormal sperm motility, Asplenia, Clubbing ORPHA:244
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Failure to thrive, Female infertility, Premature ovarian insufficiency OMIM:619518
Dyskeratosis Congenita, Autosomal Recessive 2
Cirrhosis, Testicular atrophy, Nail dystrophy OMIM:613987
Alström Syndrome
Hyperinsulinemia, Pancreatitis, Decreased fertility in males, Abnormal liver physiology, Hepatome... ORPHA:64
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Female infertility, Thick eyebrow, Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypo... ORPHA:572333
Retinoblastoma
Vitreous hemorrhage, Cellulitis, Subretinal pigment epithelium hemorrhage, Pineoblastoma, Hyphema ORPHA:790
Vitreoretinochoroidopathy
Vitreous hemorrhage, Retinal neovascularization OMIM:193220
Seckel Syndrome 10
Glucose intolerance, Metaphyseal widening, Cone-shaped epiphysis, Elevated circulating luteinizin... OMIM:617253
45,X/46,Xy Mixed Gonadal Dysgenesis
Ambiguous genitalia, female, Streak ovary, Ambiguous genitalia, Abnormal internal genitalia, Bila... ORPHA:1772
Carney Complex
Increased circulating insulin-like growth factor 1 concentration, Pituitary growth hormone cell a... ORPHA:1359
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating androgen concentration, Abnormal external genitalia, Decreased circulating ... ORPHA:95699
Persistent Hyperplastic Primary Vitreous
Hemorrhage of the eye ORPHA:91495
Liver Disease, Severe Congenital
Hydrocele testis, Exocrine pancreatic insufficiency, Hepatomegaly, Hepatic failure, Systolic hear... OMIM:619991
Uveal Melanoma
Vitreous hemorrhage ORPHA:39044
Pmm2-Cdg
Angina pectoris, Multiple joint contractures, Hyperinsulinemia, Osteopenia, Increased circulating... ORPHA:79318
Pseudoxanthoma Elasticum
Angina pectoris, Telangiectasia of the skin, Bruising susceptibility, Hypertension, Restrictive c... ORPHA:758
Lethal Congenital Contracture Syndrome 5
Congenital contracture, Retinal hemorrhage, Flexion contracture, Small for gestational age OMIM:615368
Tenorio Syndrome
Hypertrichosis, Thick eyebrow, Hypoinsulinemia, Raynaud phenomenon, Osteopenia, Syncope, Hypoglyc... OMIM:616260
Gm1 Gangliosidosis Type 1
Broad metacarpals, Flattened femoral head, Hirsutism, Exaggerated startle response, Flared iliac ... ORPHA:79255
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Micronodular cirrhosis, Vasculitis in the skin, Raynaud phenomenon, Retinal hemorrhage, Elevated ... OMIM:192315
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Testicular atrophy, Resting tremor, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary... OMIM:157640
Juvenile Xanthogranuloma
Hyphema ORPHA:158000
Glutaryl-Coa Dehydrogenase Deficiency
Subdural hemorrhage, Retinal hemorrhage, Athetosis, Tremor, Limb dystonia, Fasting hypoglycemia, ... ORPHA:25
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Oligospermia, Breast hypoplasia, Clitoral hypoplasia, Diabetes mellitus OMIM:614813
Plaa-Associated Neurodevelopmental Disorder
Failure to thrive, Hirsutism, Exaggerated startle response, Hyperextensibility of the finger join... ORPHA:521426
X-Linked Intellectual Disability, Snyder Type
Recurrent fractures, Testicular atrophy, Sparse eyebrow, Arachnodactyly, Abnormality of the Leydi... ORPHA:3063
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Failure to thrive, Sparse hair, Inguinal hernia, Generalized joint laxity, Coarse hair, Congenita... ORPHA:357074
Stiff-Person Syndrome
Exaggerated startle response, Opisthotonus, Tachycardia, Diabetes mellitus, Hypertension OMIM:184850
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Palmoplantar hyperhidrosis, Hirsutism, Failure to thrive, Exaggerated startle response, Postaxial... OMIM:617527
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Hyphema OMIM:221900
Stiff Person Spectrum Disorder
Hypothyroidism, Exaggerated startle response, Diabetes mellitus ORPHA:3198
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Limited hip extension, Corneal scarring, Talipes equinovarus, Flexion contracture, Tachycardia, R... OMIM:614653
Developmental And Epileptic Encephalopathy 68
Failure to thrive, Exaggerated startle response, Flexion contracture OMIM:618201
Lesch-Nyhan Syndrome
Testicular atrophy, Opisthotonus, Choreoathetosis, Podagra, Dystonia OMIM:300322
Waldenström Macroglobulinemia
Hepatomegaly, Splenomegaly, Retinal hemorrhage, Vasculitis, Gingival bleeding, Purpura, Gastroint... ORPHA:33226
Bloom Syndrome
Oligospermia, Male infertility, Diabetes mellitus, Azoospermia, Premature ovarian insufficiency ORPHA:125
Sandhoff Disease
Impotence, Hepatomegaly, Exaggerated startle response, Orthostatic hypotension, Hepatosplenomegal... OMIM:268800
Pseudoxanthoma Elasticum
Angina pectoris, Intermittent claudication, Mitral stenosis, Restrictive cardiomyopathy, Weak pul... OMIM:264800
Cockayne Syndrome
Reduced subcutaneous adipose tissue, Action tremor, Hepatomegaly, Splenomegaly, Intention tremor,... ORPHA:191
Incontinentia Pigmenti
Sparse hair, Supernumerary nipple, Alopecia, Coarse hair, Atrophic, patchy alopecia, Retinal hemo... OMIM:308300
Ciliary Dyskinesia, Primary, 1
Male infertility, Absent outer dynein arms OMIM:244400
Hyperekplexia 1
Hip dislocation, Exaggerated startle response, Inguinal hernia, Umbilical hernia OMIM:149400
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Blepharospasm, Exaggerated startle response, Oculogyric crisis, Hypotension, Athetos... OMIM:608643
Asparagine Synthetase Deficiency
Large hands, Failure to thrive, Exaggerated startle response OMIM:615574
Spastic Tetraplegia And Axial Hypotonia, Progressive
Overlapping toe, Exaggerated startle response OMIM:618598
Renal Cysts And Diabetes Syndrome
Hypoplasia of the uterus, Atretic vas deferens, Bicornuate uterus, Reduced sperm motility, Maturi... OMIM:137920
Phacoanaphylactic Uveitis
Retinal arteritis, Hyphema ORPHA:209959
Autosomal Dominant Polycystic Kidney Disease
Pituitary growth hormone cell adenoma, Pancreatic cysts, Reduced sperm motility ORPHA:730
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Supraventricular arrhythmia, Retinal hemorrhage, Raynaud phenomenon OMIM:611773
Tay-Sachs Disease
Precocious puberty, Distal upper limb muscle weakness, Laryngeal dystonia, Exaggerated startle re... ORPHA:845
Generalized Arterial Calcification Of Infancy
Hypophosphatemic rickets, Transient ischemic attack, Hypertension, Adrenal calcification, Hepatic... ORPHA:51608
Retinal Arteries, Tortuosity Of
Retinal hemorrhage OMIM:180000
Cockayne Syndrome Type 3
Hepatomegaly, Subdural hemorrhage, Flexion contracture, Splenomegaly, Intention tremor, Dry hair,... ORPHA:90324
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Hydrocele testis, Chordee, Clinodactyly of the 5th finger, Imperforate hymen, Exaggerated startle... OMIM:619522
Pseudoxanthoma Elasticum, Forme Fruste
Angina pectoris, Gastrointestinal hemorrhage, Retinal hemorrhage, Cerebral hemorrhage OMIM:177850
Idiopathic Aplastic Anemia
Ecchymosis, Gingival bleeding, Epistaxis, Retinal hemorrhage ORPHA:88
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Retinal hemorrhage OMIM:264420
Macular Degeneration, Age-Related, 1
Macular hemorrhage OMIM:603075
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response, Flexion contracture OMIM:609541
Fanconi Anemia, Complementation Group A
Hypergonadotropic hypogonadism, Cryptorchidism, Male infertility OMIM:227650
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Multiple joint contractures, Exaggerated startle response ORPHA:320406
Rift Valley Fever
Melena, Hematemesis, Abnormal bleeding, Retinal hemorrhage, Gingival bleeding, Elevated hepatic t... ORPHA:319251
Refractory Anemia With Excess Blasts
Abnormal bleeding, Palpitations, Retinal hemorrhage ORPHA:86839
Central Retinal Vein Occlusion
Intraretinal hemorrhage, Retinal neovascularization ORPHA:411527
Leukocyte Adhesion Deficiency
Osteomyelitis, Hyperinsulinemic hypoglycemia, Coronal craniosynostosis, Abnormal bleeding, Perito... ORPHA:2968
Tetrasomy 9P
Infertility, Cryptorchidism, Micropenis, Oligospermia, Polymicrogyria, Absent gallbladder, Lissen... ORPHA:3310
Hyperekplexia 2
Hiatus hernia, Exaggerated startle response OMIM:614619
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Uterine prolapse, Abnormality of the endocrine system, Precocious puberty, Cryptorchidism, Exagge... ORPHA:438213
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Granulomatosis With Polyangiitis
Weight loss, Diffuse alveolar hemorrhage, Retinal hemorrhage, Localized pulmonary hemorrhage OMIM:608710
Familial Drusen
Macular hemorrhage ORPHA:75376
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response ORPHA:309246
Retinoblastoma
Vitreous hemorrhage, Pinealoma OMIM:180200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Pulmonic stenosis, Dilated cardiomyopathy, Exaggerated startle response, Flexion contracture OMIM:253800
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Tubulointerstitial Nephritis And Uveitis Syndrome
Weight loss, Vitreous hemorrhage, Chorioretinal scar ORPHA:91500
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Exaggerated startle response ORPHA:438216
Coccidioidomycosis
Abnormality of the endocrine system, Abnormal sperm morphology, Abnormality of the male genitalia... ORPHA:228123
Trichinellosis
Retinal hemorrhage ORPHA:863
Cystinosis, Nephropathic
Male infertility, Delayed puberty, Male hypogonadism, Primary hypothyroidism, Diabetes mellitus OMIM:219800
Noonan Syndrome 1