IG
MCID: IMN001
MIFTS: 45

Iminoglycinuria (IG)

Categories: Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Iminoglycinuria

MalaCards integrated aliases for Iminoglycinuria:

Name: Iminoglycinuria 56 74 52 58 73 36 29 54 6 39 71
Iminoglycinuria, Digenic 56 13 6
Ig 73

Characteristics:

Orphanet epidemiological data:

58
iminoglycinuria
Inheritance: Autosomal recessive; Age of onset: All ages;

OMIM:

56
Inheritance:
autosomal recessive
digenic recessive

Miscellaneous:
hyperglycinuria in heterozygotes


HPO:

31
iminoglycinuria:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Inborn errors of metabolism


External Ids:

OMIM 56 242600
KEGG 36 H00905
MeSH 43 D000608
MESH via Orphanet 44 C536285
ICD10 via Orphanet 33 E72.0
UMLS via Orphanet 72 C0268654
Orphanet 58 ORPHA42062
MedGen 41 C0268654
UMLS 71 C0268654

Summaries for Iminoglycinuria

OMIM : 56 The imino acids, proline and hydroxyproline, share a renal tubular reabsorptive mechanism with glycine. Iminoglycinuria (IG), a benign inborn error of amino acid transport, is also a normal finding in neonates and infants under 6 months of age (Chesney, 2001). Early studies of families with iminoglycinuria suggested genetic complexity, with homozygotes developing IG and heterozygotes manifesting only hyperglycinuria (HG; 138500) (summary by Broer et al., 2008). Iminoglycinuria may be more frequent in Ashkenazim than in others (Tancredi et al., 1970). Iminoglycinuria also occurs as part of the generalized amino aciduria of the Fanconi renotubular syndrome (134600). (242600)

MalaCards based summary : Iminoglycinuria, also known as iminoglycinuria, digenic, is related to hyperglycinuria and hyper-ige recurrent infection syndrome 1, autosomal dominant. An important gene associated with Iminoglycinuria is SLC36A2 (Solute Carrier Family 36 Member 2), and among its related pathways/superpathways are Protein digestion and absorption and Mineral absorption. Affiliated tissues include eye, retina and kidney, and related phenotypes are intellectual disability and abnormality of the eye

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 42062 Definition Iminoglycinuria is a metabolic disorder resulting from defective renal tube reabsorption of proline, hydroxyproline and glycine. The prevalence is estimated at around 1 in 15 000. The disorder is usually asymptomatic and is identified fortuitously by detection of increased levels of the imino acids and glycine in the urine. It is transmitted as an autosomal recessive trait . Visit the Orphanet disease page for more resources.

KEGG : 36 Iminoglycinuria is a benign condition characterized by the excretion of proline, hydroxyproline, and glycine in the urine. The disorder is of autosomal recessive inheritance and is genetically complex. Inactivation or reduced function of SLC36A2 (PAT-2) is the predominant determinant of the iminoglycinuria phenotype in humans. Mutations in SLC6A20 (SIT-1) and SLC6A19 (B0AT1) could also be the cause.

UniProtKB/Swiss-Prot : 73 Iminoglycinuria: A disorder of renal tubular reabsorption of glycine and imino acids (proline and hydroxyproline), marked by excessive levels of all three substances in the urine.

Wikipedia : 74 Iminoglycinuria, is an autosomal recessive disorder of renal tubular transport affecting reabsorption of... more...

Related Diseases for Iminoglycinuria

Diseases related to Iminoglycinuria via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 1190, show less)
# Related Disease Score Top Affiliating Genes
1 hyperglycinuria 31.3 SLC6A20 SLC6A19 SLC6A18 SLC36A2
2 hyper-ige recurrent infection syndrome 1, autosomal dominant 12.9
3 hyper ige syndrome 12.8
4 hyper-ige recurrent infection syndrome 2, autosomal recessive 12.7
5 congenital disorder of glycosylation, type ig 12.6
6 hyper-ige recurrent infection syndrome 3, autosomal recessive 12.6
7 hyper-ige recurrent infection syndrome 4, autosomal recessive 12.6
8 erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige 12.5
9 ige responsiveness, atopic 12.5
10 hyper ige recurrent infection syndrome 1 12.4
11 amelogenesis imperfecta, type ig 12.4
12 selective ige deficiency disease 12.4
13 hyper ige recurrent infection syndrome 2 12.3
14 hyper ige recurrent infection syndrome 3 12.3
15 hyper ige recurrent infection syndrome 4 12.3
16 obsolete: autosomal recessive hyper-ige syndrome 12.3
17 usher syndrome, type ig 12.2
18 immunodeficiency 35 12.1
19 amelogenesis imperfecta hypoplastic type, ig 12.1
20 acquired monoclonal ig light chain-associated fanconi syndrome 12.1
21 epilepsy, idiopathic generalized 12.1
22 netherton syndrome 12.0
23 immunodeficiency 23 12.0
24 dock8 immunodeficiency syndrome 12.0
25 megaloblastic anemia 1 11.9
26 immunodeficiency 11b with atopic dermatitis 11.8
27 common variable immunodeficiency 11.8
28 asthma 11.8
29 agammaglobulinemia 11.7
30 immunodeficiency with hyper-igm, type 1 11.7
31 pgm3-congenital disorder of glycosylation 11.7
32 immunoglobulin e concentration, serum 11.6
33 allergic asthma 11.6
34 allergic rhinitis 11.6
35 immunodeficiency with hyper-igm, type 2 11.6
36 c3 glomerulopathy 11.6
37 agammaglobulinemia, x-linked 11.5
38 asthma-related traits 1 11.5
39 asthma-related traits 2 11.5
40 omenn syndrome 11.5
41 immunodeficiency with hyper-igm, type 4 11.5
42 asthma-related traits 4 11.4
43 nephrotic syndrome, type 7 11.4
44 dermatitis herpetiformis 11.4
45 chronic mucocutaneous candidiasis 11.4
46 anemia, autoimmune hemolytic 11.3
47 immunoglobulin a deficiency 1 11.3
48 lymphoplasmacytic lymphoma 11.3
49 amyloidosis, hereditary, transthyretin-related 11.3
50 masa syndrome 11.3
51 immunodeficiency with hyper-igm, type 3 11.3
52 immunodeficiency with hyper-igm, type 5 11.3
53 peeling skin syndrome 1 11.2
54 kagami-ogata syndrome 11.2
55 asthma-related traits 5 11.2
56 asthma-related traits 7 11.2
57 megaloblastic anemia 11.1
58 leukocyte adhesion deficiency, type i 11.0
59 dermatitis, atopic, 2 11.0
60 epilepsy, juvenile absence 1 11.0
61 asthma-related traits 3 11.0
62 epilepsy, idiopathic generalized 13 11.0
63 asthma-related traits 6 11.0
64 epilepsy, idiopathic generalized 10 11.0
65 peeling skin syndrome 3 11.0
66 peeling skin syndrome 5 11.0
67 platelet abnormalities with eosinophilia and immune-mediated inflammatory disease 11.0
68 peeling skin syndrome 6 11.0
69 immunodeficiency-centromeric instability-facial anomalies syndrome 11.0
70 dermatitis, atopic 11.0
71 rhinitis 11.0
72 dermatitis 11.0
73 cutaneous leishmaniasis 10.9
74 allergic hypersensitivity disease 10.9
75 food allergy 10.9
76 systemic lupus erythematosus 10.9
77 urticaria 10.8
78 hypereosinophilic syndrome 10.8
79 follicular lymphoma 10.8
80 rheumatoid arthritis 10.8
81 influenza 10.7
82 pollen allergy 10.7
83 milk allergy 10.6
84 prostate cancer 10.6
85 alzheimer disease 10.6
86 aspergillosis 10.6
87 peanut allergy 10.6
88 autoimmune disease 10.5
89 pertussis 10.5
90 skin disease 10.5
91 conjunctivitis 10.5
92 cytokine deficiency 10.5
93 lymphocytic leukemia 10.5
94 respiratory allergy 10.5
95 allergic bronchopulmonary aspergillosis 10.5
96 egg allergy 10.5
97 schistosoma mansoni infection, susceptibility/ 10.5
98 schistosomiasis 10.5
99 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.5
100 bullous pemphigoid 10.5
101 lymphoma 10.5
102 myeloma, multiple 10.5
103 immune deficiency disease 10.5
104 latex allergy 10.5
105 proteasome-associated autoinflammatory syndrome 1 10.5
106 tetanus 10.5
107 severe combined immunodeficiency 10.4
108 leukemia, chronic lymphocytic 10.4
109 allergic conjunctivitis 10.4
110 b-cell lymphoma 10.4
111 hepatosplenic t-cell lymphoma 10.4
112 angioedema 10.4
113 cholera 10.4
114 bronchitis 10.4
115 leukemia 10.4
116 inflammatory bowel disease 10.4
117 filariasis 10.4
118 glomerulonephritis 10.4
119 lung disease 10.4
120 lupus erythematosus 10.4
121 otitis media 10.3
122 melioidosis 10.3
123 colorectal adenoma 10.3
124 neuroblastoma 10.3
125 mastocytosis 10.3
126 wheat allergy 10.3
127 plasmacytoma 10.3
128 exanthem 10.3
129 penicillin allergy 10.3
130 immunoglobulin alpha deficiency 10.3
131 bacterial infectious disease 10.3
132 keratoconjunctivitis 10.3
133 exercise-induced anaphylaxis 10.3
134 nephrotic syndrome 10.3
135 burkitt lymphoma 10.3
136 cystic fibrosis 10.3
137 48,xyyy 10.3
138 esophagitis 10.3
139 contact dermatitis 10.3
140 cystathioninuria 10.3
141 gyrate atrophy of choroid and retina 10.3
142 glycine encephalopathy 10.3
143 aminoaciduria 10.3
144 esophagitis, eosinophilic, 1 10.3
145 drug allergy 10.3
146 diphtheria 10.3
147 leukemia, acute lymphoblastic 10.3
148 echinococcosis 10.3
149 candidiasis 10.3
150 pulmonary eosinophilia 10.3
151 ulcerative colitis 10.2
152 intrinsic asthma 10.2
153 neural tube defects 10.2
154 enterocolitis 10.2
155 scoliosis 10.2
156 vasculitis 10.2
157 diarrhea 10.2
158 toxic shock syndrome 10.2
159 crohn's disease 10.2
160 psoriasis 10.2
161 graft-versus-host disease 10.2
162 pancreatic ductal adenocarcinoma 10.2
163 renal oncocytoma 10.2
164 b-cell growth factor 10.2
165 fish allergy 10.2
166 pustulosis of palm and sole 10.2
167 scabies 10.2
168 pemphigus 10.2
169 cow milk allergy 10.2
170 filarial elephantiasis 10.2
171 haemophilus influenzae 10.2
172 combined t cell and b cell immunodeficiency 10.2
173 bronchiectasis 10.2
174 celiac disease 1 10.1
175 malaria 10.1
176 gastroenteritis 10.1
177 acquired immunodeficiency syndrome 10.1
178 anisakiasis 10.1
179 parasitic helminthiasis infectious disease 10.1
180 toxocariasis 10.1
181 vernal keratoconjunctivitis 10.1
182 cystinuria 10.1
183 alpha-1-antitrypsin deficiency 10.1
184 3-methylcrotonyl-coa carboxylase deficiency 10.1
185 ornithinemia 10.1
186 encephalopathy 10.1
187 spasticity 10.1
188 kala-azar 1 10.1
189 diffuse large b-cell lymphoma 10.1
190 strongyloidiasis 10.1
191 leishmaniasis 10.1
192 amyloidosis 10.1
193 atopic keratoconjunctivitis 10.1
194 thymoma, familial 10.1
195 shrimp allergy 10.1
196 fruit allergy 10.1
197 graves' disease 10.1
198 thymoma 10.1
199 eosinophilic gastroenteritis 10.1
200 lymphoma, hodgkin, classic 10.1
201 helix syndrome 10.1
202 pulmonary tuberculosis 10.1
203 herpes simplex 10.1
204 respiratory failure 10.1
205 measles 10.1
206 rubella 10.1
207 mast-cell leukemia 10.1
208 47,xyy 10.1
209 acute graft versus host disease 10.1
210 ataxia-telangiectasia 10.1
211 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.1
212 leukemia, acute myeloid 10.1
213 ascaris lumbricoides infection 10.1
214 lymphoma, non-hodgkin, familial 10.1
215 pulmonary disease, chronic obstructive 10.1
216 colitis 10.1
217 cysticercosis 10.1
218 giardiasis 10.1
219 telangiectasis 10.1
220 uveitis 10.1
221 allergic contact dermatitis 10.1
222 churg-strauss syndrome 10.1
223 neurodermatitis 10.1
224 purpura 10.1
225 kidney disease 10.1
226 trichinosis 10.1
227 toxoplasmosis 10.1
228 cerebrofacial arteriovenous metameric syndrome 10.1
229 sarcoidosis 1 10.0
230 ataxia and polyneuropathy, adult-onset 10.0
231 iga glomerulonephritis 10.0
232 mast cell neoplasm 10.0
233 extracutaneous mastocytoma 10.0
234 extrinsic allergic alveolitis 10.0
235 arthritis 10.0
236 rapidly involuting congenital hemangioma 10.0
237 ovarian cancer 10.0
238 papillomatosis, confluent and reticulated 10.0
239 leprosy 3 10.0
240 mycosis fungoides 10.0
241 psoriatic arthritis 10.0
242 leukemia, acute lymphoblastic 3 10.0
243 intestinal schistosomiasis 10.0
244 mumps 10.0
245 chlamydia 10.0
246 hepatitis a 10.0
247 bronchiolitis 10.0
248 ascaridiasis 10.0
249 systemic mastocytosis 10.0
250 vasomotor rhinitis 10.0
251 chronic rhinitis 10.0
252 neuropathy 10.0
253 congenital disorders of n-linked glycosylation and multiple pathway 10.0
254 hansen's disease 10.0
255 plasma cell leukemia 10.0
256 fibrosis of extraocular muscles, congenital, 1 10.0
257 pemphigus vulgaris, familial 10.0
258 triiodothyronine receptor auxiliary protein 10.0
259 marginal zone b-cell lymphoma 10.0
260 gastritis 10.0
261 liver disease 10.0
262 nut allergy 10.0
263 elephantiasis 10.0
264 human immunodeficiency virus infectious disease 10.0
265 intestinal volvulus 10.0
266 chickenpox 10.0
267 dermatophytosis 10.0
268 allergic angiitis 10.0
269 glioma 10.0
270 pemphigus foliaceus 10.0
271 splenomegaly 10.0
272 cytomegalovirus infection 10.0
273 glial tumor 10.0
274 pfeiffer syndrome 10.0
275 leukemia, chronic lymphocytic 2 10.0
276 helicobacter pylori infection 10.0
277 kawasaki disease 10.0
278 congenital disorder of glycosylation, type in 10.0
279 igg4-related disease 10.0
280 onchocerciasis 10.0
281 chagas disease 10.0
282 plasmodium falciparum malaria 10.0
283 thrombocytopenia 10.0
284 ichthyosis 10.0
285 viral hepatitis 10.0
286 hepatitis b 10.0
287 glioblastoma multiforme 10.0
288 chronic granulomatous disease 10.0
289 myopathy 10.0
290 intestinal disease 10.0
291 eosinophilic pneumonia 10.0
292 t-cell leukemia 10.0
293 encephalitis 10.0
294 irritable bowel syndrome 10.0
295 allergic encephalomyelitis 10.0
296 homologous wasting disease 10.0
297 aneurysm 10.0
298 precursor t-cell acute lymphoblastic leukemia 10.0
299 multiple sclerosis 9.9
300 felty syndrome 9.9
301 sudden infant death syndrome 9.9
302 dermatitis herpetiformis, familial 9.9
303 aplastic anemia 9.9
304 membranous nephropathy 9.9
305 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 9.9
306 autoimmune uveitis 9.9
307 mantle cell lymphoma 9.9
308 peach allergy 9.9
309 beta-lactam allergy 9.9
310 protein-losing enteropathy 9.9
311 paracoccidioidomycosis 9.9
312 shipyard eye 9.9
313 arthus reaction 9.9
314 lymphadenitis 9.9
315 epilepsy 9.9
316 constipation 9.9
317 demyelinating disease 9.9
318 myelitis 9.9
319 vaccinia 9.9
320 conjunctival disease 9.9
321 liver cirrhosis 9.9
322 peripheral nervous system disease 9.9
323 lymphopenia 9.9
324 connective tissue disease 9.9
325 periodontitis 9.9
326 collagen disease 9.9
327 molluscum contagiosum 9.9
328 chorioretinitis 9.9
329 lichen planus 9.9
330 stomatitis 9.9
331 alopecia 9.9
332 muscular dystrophy 9.9
333 microcephaly 9.9
334 chromosomal triplication 9.9
335 atherosclerosis susceptibility 9.9
336 gastroesophageal reflux 9.9
337 migraine with or without aura 1 9.9
338 down syndrome 9.9
339 wiskott-aldrich syndrome 9.9
340 leukemia, chronic myeloid 9.9
341 human immunodeficiency virus type 1 9.9
342 hepatitis c virus 9.9
343 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
344 hydrops, lactic acidosis, and sideroblastic anemia 9.9
345 cutaneous t cell lymphoma 9.9
346 tomato allergy 9.9
347 lymphoproliferative syndrome 9.9
348 childhood acute lymphocytic leukemia 9.9
349 dermatomyositis 9.9
350 tonsillitis 9.9
351 allergic urticaria 9.9
352 interstitial nephritis 9.9
353 paragonimiasis 9.9
354 t cell deficiency 9.9
355 rabies 9.9
356 neutropenia 9.9
357 clonorchiasis 9.9
358 cystic echinococcosis 9.9
359 hepatitis c 9.9
360 craniosynostosis 9.9
361 epidermolysis bullosa 9.9
362 syphilis 9.9
363 folliculitis 9.9
364 pneumonia 9.9
365 eye disease 9.9
366 appendicitis 9.9
367 osteoarthritis 9.9
368 seborrheic dermatitis 9.9
369 macroglobulinemia 9.9
370 visceral leishmaniasis 9.9
371 viral infectious disease 9.9
372 meningitis 9.9
373 chronic eosinophilic pneumonia 9.9
374 al amyloidosis 9.9
375 cold urticaria 9.9
376 stevens-johnson syndrome/toxic epidermal necrolysis 9.9
377 systemic autoimmune disease 9.9
378 alcohol dependence 9.8
379 spondyloarthropathy 1 9.8
380 attention deficit-hyperactivity disorder 9.8
381 renal cell carcinoma, nonpapillary 9.8
382 ichthyosis vulgaris 9.8
383 myositis 9.8
384 retinal detachment 9.8
385 scleroderma, familial progressive 9.8
386 thrombocytopenic purpura, autoimmune 9.8
387 lung cancer 9.8
388 diabetes mellitus, insulin-dependent 9.8
389 fabry disease 9.8
390 yemenite deaf-blind hypopigmentation syndrome 9.8
391 branchiootic syndrome 1 9.8
392 mycobacterium tuberculosis 1 9.8
393 granulomatosis with polyangiitis 9.8
394 hyperlipoproteinemia, type iii 9.8
395 deficiency anemia 9.8
396 chlamydia pneumonia 9.8
397 autoimmune pancreatitis 9.8
398 physical urticaria 9.8
399 prolymphocytic leukemia 9.8
400 common cold 9.8
401 japanese encephalitis 9.8
402 brucellosis 9.8
403 pulmonary edema 9.8
404 pyelonephritis 9.8
405 visual epilepsy 9.8
406 coronary artery anomaly 9.8
407 inflammatory spondylopathy 9.8
408 alveolar echinococcosis 9.8
409 primary biliary cirrhosis 9.8
410 acute leukemia 9.8
411 loiasis 9.8
412 polyneuropathy 9.8
413 oral candidiasis 9.8
414 duodenal ulcer 9.8
415 squamous cell carcinoma 9.8
416 vernal conjunctivitis 9.8
417 chronic conjunctivitis 9.8
418 hairy cell leukemia 9.8
419 membranoproliferative glomerulonephritis 9.8
420 adenocarcinoma 9.8
421 interstitial lung disease 9.8
422 histiocytosis 9.8
423 epidermolysis bullosa acquisita 9.8
424 proliferative glomerulonephritis 9.8
425 hemolytic anemia 9.8
426 spondylitis 9.8
427 monoclonal gammopathy of uncertain significance 9.8
428 gastrointestinal system disease 9.8
429 myocarditis 9.8
430 herpes zoster 9.8
431 myeloid leukemia 9.8
432 intermediate coronary syndrome 9.8
433 mucocutaneous leishmaniasis 9.8
434 hypoglycemia 9.8
435 hemophilia 9.8
436 polymyositis 9.8
437 stachybotrys chartarum 9.8
438 dysphagia 9.8
439 headache 9.8
440 seizure disorder 9.8
441 idiopathic nephrotic syndrome 9.8
442 neurofibromatosis, type ii 9.8
443 arteries, anomalies of 9.8
444 colorectal cancer 9.8
445 mastocytosis, cutaneous 9.8
446 ocular cicatricial pemphigoid 9.8
447 prolidase deficiency 9.8
448 polykaryocytosis inducer 9.8
449 dowling-degos disease 1 9.8
450 small cell cancer of the lung 9.8
451 pancreatic cancer 9.8
452 sjogren syndrome 9.8
453 autoimmune lymphoproliferative syndrome 9.8
454 langerhans cell histiocytosis 9.8
455 myocardial infarction 9.8
456 dengue virus 9.8
457 leptin deficiency or dysfunction 9.8
458 cholangiocarcinoma 9.8
459 mucopolysaccharidosis-plus syndrome 9.8
460 gastrointestinal ulceration, recurrent, with dysfunctional platelets 9.8
461 peripheral vascular disease 9.8
462 angina pectoris 9.8
463 chlorhexidine allergy 9.8
464 autoimmune glomerulonephritis 9.8
465 invasive aspergillosis 9.8
466 autosomal recessive disease 9.8
467 secondary progressive multiple sclerosis 9.8
468 interleukin-7 receptor alpha deficiency 9.8
469 keratoconus 9.8
470 pleurisy 9.8
471 lactose intolerance 9.8
472 microphthalmia 9.8
473 lipoid nephrosis 9.8
474 gnathomiasis 9.8
475 emery-dreifuss muscular dystrophy 9.8
476 lyme disease 9.8
477 synostosis 9.8
478 cryptococcosis 9.8
479 goiter 9.8
480 dysentery 9.8
481 tinea pedis 9.8
482 migraine without aura 9.8
483 focal segmental glomerulosclerosis 9.8
484 opisthorchiasis 9.8
485 interstitial cystitis 9.8
486 sclerosing cholangitis 9.8
487 cholinergic urticaria 9.8
488 hypothyroidism 9.8
489 cystitis 9.8
490 pharyngitis 9.8
491 synovitis 9.8
492 sick building syndrome 9.8
493 idiopathic interstitial pneumonia 9.8
494 early myoclonic encephalopathy 9.8
495 gingivitis 9.8
496 proctitis 9.8
497 fibrosarcoma 9.8
498 laryngitis 9.8
499 skin carcinoma 9.8
500 cellulitis 9.8
501 mixed connective tissue disease 9.8
502 pulmonary fibrosis 9.8
503 systemic scleroderma 9.8
504 pyoderma 9.8
505 avian influenza 9.8
506 intrahepatic cholangiocarcinoma 9.8
507 pancreatitis 9.8
508 demyelinating polyneuropathy 9.8
509 acute t cell leukemia 9.8
510 juvenile rheumatoid arthritis 9.8
511 thyroiditis 9.8
512 enterobiasis 9.8
513 septic arthritis 9.8
514 cataract 9.8
515 chronic fatigue syndrome 9.8
516 amebiasis 9.8
517 cholangitis 9.8
518 pulmonary emphysema 9.8
519 hypertrophic cardiomyopathy 9.8
520 coronary artery aneurysm 9.8
521 gnathostoma infection 9.8
522 human t-cell leukemia virus type 1 9.8
523 mast cell activation syndrome 9.8
524 multifocal motor neuropathy 9.8
525 papular urticaria 9.8
526 thrombasthenia 9.8
527 perioral myoclonia with absences 9.8
528 argyria 9.8
529 maternal uniparental disomy 9.8
530 overgrowth syndrome 9.8
531 saethre-chotzen syndrome 9.7
532 breast cancer 9.7
533 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 9.7
534 cryoglobulinemia, familial mixed 9.7
535 dermal ridges-off-the-end 9.7
536 erythroleukemia, familial 9.7
537 factor viii deficiency 9.7
538 lymphoma, mucosa-associated lymphoid type 9.7
539 hashimoto thyroiditis 9.7
540 hypercholesterolemia, familial, 1 9.7
541 endosteal hyperostosis, autosomal dominant 9.7
542 immunoglobulin switch sequences 9.7
543 inclusion body myositis 9.7
544 keratitis, hereditary 9.7
545 meniere disease 9.7
546 paroxysmal extreme pain disorder 9.7
547 silver-russell syndrome 9.7
548 spondylosis, cervical 9.7
549 alopecia universalis congenita 9.7
550 autism 9.7
551 c syndrome 9.7
552 chordoma 9.7
553 dubowitz syndrome 9.7
554 nijmegen breakage syndrome 9.7
555 myasthenia gravis 9.7
556 myelofibrosis 9.7
557 epilepsy, myoclonic juvenile 9.7
558 ocular motor apraxia 9.7
559 phenylketonuria 9.7
560 insulin-like growth factor i 9.7
561 squamous cell carcinoma, head and neck 9.7
562 xeroderma pigmentosum, variant type 9.7
563 severe combined immunodeficiency, x-linked 9.7
564 hemophilia a 9.7
565 ichthyosis, x-linked 9.7
566 aging 9.7
567 patent ductus venosus 9.7
568 xanthomatosis 9.7
569 macular degeneration, age-related, 1 9.7
570 light fixation seizure syndrome 9.7
571 sickle cell anemia 9.7
572 cervical cancer 9.7
573 paragangliomas 3 9.7
574 body mass index quantitative trait locus 1 9.7
575 nasopharyngeal carcinoma 9.7
576 anxiety 9.7
577 severe cutaneous adverse reaction 9.7
578 hemophagocytic lymphohistiocytosis, familial, 3 9.7
579 west nile virus 9.7
580 lung cancer susceptibility 3 9.7
581 microvascular complications of diabetes 3 9.7
582 microvascular complications of diabetes 4 9.7
583 microvascular complications of diabetes 6 9.7
584 microvascular complications of diabetes 7 9.7
585 dermatitis, atopic, 9 9.7
586 cholangitis, primary sclerosing 9.7
587 cyanosis, transient neonatal 9.7
588 alacrima, achalasia, and mental retardation syndrome 9.7
589 temple syndrome 9.7
590 spastic paraplegia, intellectual disability, nystagmus, and obesity 9.7
591 amoxicillin allergy 9.7
592 cephalosporin allergy 9.7
593 oxirane allergy 9.7
594 erythema multiforme 9.7
595 taeniasis 9.7
596 sleep apnea 9.7
597 lung abscess 9.7
598 crustacean allergy 9.7
599 salmonellosis 9.7
600 cryptococcal meningitis 9.7
601 sensorineural hearing loss 9.7
602 viral meningitis 9.7
603 nasopharyngitis 9.7
604 meningoencephalitis 9.7
605 pre-eclampsia 9.7
606 chronic pyelonephritis 9.7
607 hypospadias 9.7
608 hydrocephalus 9.7
609 heart disease 9.7
610 hemopericardium 9.7
611 dysgammaglobulinemia 9.7
612 pericardial effusion 9.7
613 clubfoot 9.7
614 optic neuritis 9.7
615 pulmonary alveolar proteinosis 9.7
616 aseptic meningitis 9.7
617 cough variant asthma 9.7
618 trichuriasis 9.7
619 von willebrand's disease 9.7
620 blastomycosis 9.7
621 guillain-barre syndrome 9.7
622 acute proliferative glomerulonephritis 9.7
623 typhoid fever 9.7
624 congenital toxoplasmosis 9.7
625 cholestasis 9.7
626 eclampsia 9.7
627 familial hypercholesterolemia 9.7
628 squamous cell papilloma 9.7
629 urinary schistosomiasis 9.7
630 childhood type dermatomyositis 9.7
631 norwegian scabies 9.7
632 farmer's lung 9.7
633 dermatomycosis 9.7
634 keratosis 9.7
635 vascular disease 9.7
636 pericarditis 9.7
637 neuritis 9.7
638 melanoma 9.7
639 autoimmune hepatitis 9.7
640 vaginitis 9.7
641 spondylosis 9.7
642 vulvovaginal candidiasis 9.7
643 hidradenitis suppurativa 9.7
644 hidradenitis 9.7
645 polyclonal hypergammaglobulinemia 9.7
646 papillary conjunctivitis 9.7
647 hematologic cancer 9.7
648 papilloma 9.7
649 skin atrophy 9.7
650 parasitic protozoa infectious disease 9.7
651 endometriosis 9.7
652 cryoglobulinemia 9.7
653 severe acute respiratory syndrome 9.7
654 astrocytoma 9.7
655 scleredema adultorum 9.7
656 lipid metabolism disorder 9.7
657 aortic aneurysm 9.7
658 arthropathy 9.7
659 secondary syphilis 9.7
660 immune-complex glomerulonephritis 9.7
661 middle ear disease 9.7
662 chronic inflammatory demyelinating polyradiculoneuropathy 9.7
663 adenosine deaminase deficiency 9.7
664 congestive heart failure 9.7
665 paraplegia 9.7
666 reactive arthritis 9.7
667 acute disseminated encephalomyelitis 9.7
668 progressive multifocal leukoencephalopathy 9.7
669 anthrax disease 9.7
670 peptic ulcer disease 9.7
671 mite infestation 9.7
672 hyperthyroidism 9.7
673 peritonitis 9.7
674 polyhydramnios 9.7
675 pyoderma gangrenosum 9.7
676 duodenitis 9.7
677 fascioliasis 9.7
678 neuromyelitis optica 9.7
679 learning disability 9.7
680 pityriasis versicolor 9.7
681 ritter's disease 9.7
682 cleft lip 9.7
683 diabetes mellitus 9.7
684 status asthmaticus 9.7
685 iridocyclitis 9.7
686 croup 9.7
687 blepharitis 9.7
688 bacterial meningitis 9.7
689 disseminated eosinophilic collagen disease 9.7
690 latent syphilis 9.7
691 indolent myeloma 9.7
692 fasciitis 9.7
693 aphthous stomatitis 9.7
694 alopecia areata 9.7
695 hydrocele 9.7
696 sickle cell disease 9.7
697 anca-associated vasculitis 9.7
698 chronic graft versus host disease 9.7
699 dentinogenesis imperfecta type 2 9.7
700 diencephalic syndrome 9.7
701 light chain deposition disease 9.7
702 lymphosarcoma 9.7
703 microscopic polyangiitis 9.7
704 myxozoa 9.7
705 neisseria meningitidis infection 9.7
706 neuromyelitis optica spectrum disorder 9.7
707 ocular toxoplasmosis 9.7
708 oral lichen planus 9.7
709 plasmablastic lymphoma 9.7
710 primary cutaneous follicle center lymphoma 9.7
711 staphylococcal toxic shock syndrome 9.7
712 sutton disease 2 9.7
713 depression 9.7
714 back pain 9.7
715 posttransplant acute limbic encephalitis 9.7
716 primary cutaneous marginal zone b-cell lymphoma 9.7
717 cleft lip/palate 9.7
718 primary eosinophilic gastrointestinal disease 9.7
719 erythema multiforme major 9.7
720 pik3ca-related overgrowth syndrome 9.7
721 staphylococcal scarlet fever 9.7
722 discoid lupus erythematosus 9.7
723 x-linked intellectual disability-macrocephaly-macroorchidism syndrome 9.7
724 red cell aplasia 9.7
725 undetermined colitis 9.7
726 heiner syndrome 9.7
727 aortic aneurysm, familial abdominal, 1 9.5
728 achondroplasia 9.5
729 angelman syndrome 9.5
730 arbitrary restriction polymorphism 1 9.5
731 hepatocellular carcinoma 9.5
732 cardiac conduction defect 9.5
733 cervical rib 9.5
734 coloboma of macula 9.5
735 dermographism, familial 9.5
736 beckwith-wiedemann syndrome 9.5
737 fucosidase regulator 9.5
738 hair whorl 9.5
739 hernia, hiatus 9.5
740 hypertriglyceridemia, familial 9.5
741 immunodeficiency with defective leukocyte and lymphocyte function and with response to histamine-1 antagonist 9.5
742 solitary median maxillary central incisor 9.5
743 marfan syndrome 9.5
744 melanoma, uveal 9.5
745 motion sickness 9.5
746 myelopathy, htlv-1-associated 9.5
747 iga nephropathy 1 9.5
748 neurofibromatosis, type iv, of riccardi 9.5
749 obsessive-compulsive disorder 9.5
750 osteoporosis 9.5
751 pheochromocytoma 9.5
752 polycystic kidney disease 1 with or without polycystic liver disease 9.5
753 actinic prurigo 9.5
754 porphyria cutanea tarda 9.5
755 prader-willi syndrome 9.5
756 ragweed sensitivity 9.5
757 t-cell subgroups, non-hla-linked 9.5
758 teeth present at birth 9.5
759 temporal arteritis 9.5
760 thrombophilia due to thrombin defect 9.5
761 digeorge syndrome 9.5
762 tibia, hypoplasia or aplasia of, with polydactyly 9.5
763 tuftsin deficiency 9.5
764 vitiligo-associated multiple autoimmune disease susceptibility 6 9.5
765 wilms tumor 1 9.5
766 atrophoderma vermiculata 9.5
767 australia antigen 9.5
768 chediak-higashi syndrome 9.5
769 chondrosarcoma 9.5
770 cystic disease of lung 9.5
771 eosinophilic fasciitis 9.5
772 fryns syndrome 9.5
773 gastroschisis 9.5
774 gaucher disease, type i 9.5
775 hydatidiform mole, recurrent, 1 9.5
776 glycogen storage disease ii 9.5
777 urofacial syndrome 1 9.5
778 immune defect due to absence of thymus 9.5
779 immunodeficiency-centromeric instability-facial anomalies syndrome 1 9.5
780 nephrotic syndrome, type 1 9.5
781 3-methylglutaconic aciduria, type iii 9.5
782 subacute sclerosing panencephalitis 9.5
783 reticulum cell sarcoma 9.5
784 retinitis pigmentosa 9.5
785 graves disease 1 9.5
786 body mass index quantitative trait locus 11 9.5
787 alopecia, androgenetic, 2 9.5
788 mcleod syndrome 9.5
789 arts syndrome 9.5
790 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 9.5
791 hemophilia b 9.5
792 isolated growth hormone deficiency, type iii, with agammaglobulinemia 9.5
793 lymphoproliferative syndrome, x-linked, 1 9.5
794 mucopolysaccharidosis, type ii 9.5
795 muscular dystrophy, duchenne type 9.5
796 diabetes and deafness, maternally inherited 9.5
797 epilepsy, nocturnal frontal lobe, 1 9.5
798 cd4/cd8 t-cell ratio 9.5
799 body mass index quantitative trait locus 9 9.5
800 body mass index quantitative trait locus 8 9.5
801 brittle bone disorder 9.5
802 megalencephalic leukoencephalopathy with subcortical cysts 1 9.5
803 aceruloplasminemia 9.5
804 ataxia-telangiectasia-like disorder 1 9.5
805 panbronchiolitis, diffuse 9.5
806 dermatitis, atopic, 3 9.5
807 dermatitis, atopic, 4 9.5
808 dermatitis, atopic, 6 9.5
809 meningioma, radiation-induced 9.5
810 vitiligo-associated multiple autoimmune disease susceptibility 1 9.5
811 gastrointestinal stromal tumor 9.5
812 scheie syndrome 9.5
813 meningioma, familial 9.5
814 epileptic encephalopathy, early infantile, 6 9.5
815 epilepsy, partial, with pericentral spikes 9.5
816 coronary heart disease 1 9.5
817 body mass index quantitative trait locus 4 9.5
818 body mass index quantitative trait locus 10 9.5
819 hypereosinophilic syndrome, idiopathic 9.5
820 body mass index quantitative trait locus 7 9.5
821 major depressive disorder 9.5
822 deafness, autosomal recessive 42 9.5
823 intraocular pressure quantitative trait locus 9.5
824 myd88 deficiency 9.5
825 body mass index quantitative trait locus 12 9.5
826 body mass index quantitative trait locus 14 9.5
827 beta-thalassemia 9.5
828 psoriasis 14, pustular 9.5
829 myelodysplastic syndrome 9.5
830 human herpesvirus 8 9.5
831 schuurs-hoeijmakers syndrome 9.5
832 body mass index quantitative trait locus 18 9.5
833 hyperprolactinemia 9.5
834 pachyonychia congenita 3 9.5
835 carbonic anhydrase va deficiency, hyperammonemia due to 9.5
836 immunodeficiency 52 9.5
837 body mass index quantitative trait locus 19 9.5
838 body mass index quantitative trait locus 20 9.5
839 cefaclor allergy 9.5
840 streptococcus pneumonia 9.5
841 bacterial sepsis 9.5
842 autoimmune vasculitis 9.5
843 pemphigus gestationis 9.5
844 chikungunya 9.5
845 hemophagocytic lymphohistiocytosis 9.5
846 aspiration pneumonia 9.5
847 tick-borne encephalitis 9.5
848 angiostrongyliasis 9.5
849 ophthalmomyiasis 9.5
850 loeys-dietz syndrome 9.5
851 multinodular goiter 9.5
852 adult t-cell leukemia 9.5
853 brachydactyly 9.5
854 fetal alcohol syndrome 9.5
855 small cell carcinoma 9.5
856 fetal alcohol spectrum disorder 9.5
857 chorioamnionitis 9.5
858 peripheral t-cell lymphoma 9.5
859 splenic marginal zone lymphoma 9.5
860 renal fibrosis 9.5
861 colorectal adenocarcinoma 9.5
862 adrenal gland pheochromocytoma 9.5
863 gastrointestinal carcinoma 9.5
864 withdrawal disorder 9.5
865 cd40 ligand deficiency 9.5
866 autism spectrum disorder 9.5
867 gluten allergy 9.5
868 diffuse alopecia areata 9.5
869 generalized epilepsy with febrile seizures plus 9.5
870 microscopic colitis 9.5
871 lymphocytic colitis 9.5
872 crohn's colitis 9.5
873 stuttering 9.5
874 ptosis 9.5
875 inguinal hernia 9.5
876 umbilical hernia 9.5
877 chicken egg allergy 9.5
878 timothy grass allergy 9.5
879 apple allergy 9.5
880 cherry allergy 9.5
881 melon allergy 9.5
882 crab allergy 9.5
883 snail allergy 9.5
884 autosomal recessive congenital ichthyosis 9.5
885 autosomal dominant nocturnal frontal lobe epilepsy 9.5
886 thrombosis 9.5
887 miyoshi muscular dystrophy 9.5
888 bone disease 9.5
889 lymphoblastic lymphoma 9.5
890 adenoid cystic carcinoma 9.5
891 polycystic kidney disease 9.5
892 asymptomatic neurosyphilis 9.5
893 trypanosomiasis 9.5
894 neuroretinitis 9.5
895 osteomyelitis 9.5
896 thalassemia 9.5
897 sialadenitis 9.5
898 endocarditis 9.5
899 asbestosis 9.5
900 berylliosis 9.5
901 byssinosis 9.5
902 silicosis 9.5
903 mooren's ulcer 9.5
904 viral pneumonia 9.5
905 glucose intolerance 9.5
906 short bowel syndrome 9.5
907 partial optic atrophy 9.5
908 portal hypertension 9.5
909 thrombotic thrombocytopenic purpura 9.5
910 gastric ulcer 9.5
911 lepromatous leprosy 9.5
912 hemiplegia 9.5
913 pasteurellosis 9.5
914 chorioretinal scar 9.5
915 sarcoma 9.5
916 spondyloarthropathy 9.5
917 disseminated intravascular coagulation 9.5
918 cat-scratch disease 9.5
919 arteriovenous malformation 9.5
920 spinal meningioma 9.5
921 choroiditis 9.5
922 alternating exotropia 9.5
923 exotropia 9.5
924 listeriosis 9.5
925 cicatricial pemphigoid 9.5
926 nephrosclerosis 9.5
927 choledocholithiasis 9.5
928 iron deficiency anemia 9.5
929 chronic laryngitis 9.5
930 protein-energy malnutrition 9.5
931 myopia 9.5
932 coronary thrombosis 9.5
933 hemosiderosis 9.5
934 dengue disease 9.5
935 alcoholic hepatitis 9.5
936 bronchopneumonia 9.5
937 pancytopenia 9.5
938 capillariasis 9.5
939 nephrocalcinosis 9.5
940 diabetic polyneuropathy 9.5
941 ancylostomiasis 9.5
942 dilated cardiomyopathy 9.5
943 carotid stenosis 9.5
944 esophageal candidiasis 9.5
945 acute cystitis 9.5
946 porphyria 9.5
947 paranasal sinus disease 9.5
948 kwashiorkor 9.5
949 premature ejaculation 9.5
950 bird fancier's lung 9.5
951 acute poststreptococcal glomerulonephritis 9.5
952 adult dermatomyositis 9.5
953 renal tubular acidosis 9.5
954 adult-onset still's disease 9.5
955 dracunculiasis 9.5
956 gonadal dysgenesis 9.5
957 hantavirus pulmonary syndrome 9.5
958 pemphigoid gestationis 9.5
959 root resorption 9.5
960 hereditary angioedema 9.5
961 alcohol use disorder 9.5
962 rheumatic disease 9.5
963 acute chest syndrome 9.5
964 thrombocytopenia due to platelet alloimmunization 9.5
965 mental depression 9.5
966 pneumothorax 9.5
967 richter's syndrome 9.5
968 histoplasmosis 9.5
969 cheilitis 9.5
970 calcinosis 9.5
971 mononeuritis multiplex 9.5
972 gaucher's disease 9.5
973 enthesopathy 9.5
974 hepatitis d 9.5
975 maxillary sinusitis 9.5
976 transient arthritis 9.5
977 b cell deficiency 9.5
978 dental caries 9.5
979 myeloproliferative neoplasm 9.5
980 focal epilepsy 9.5
981 hepatitis 9.5
982 colon adenocarcinoma 9.5
983 iron metabolism disease 9.5
984 neonatal jaundice 9.5
985 blepharoconjunctivitis 9.5
986 giant papillary conjunctivitis 9.5
987 hereditary spastic paraplegia 9.5
988 splenic disease 9.5
989 hemangioma 9.5
990 familial nephrotic syndrome 9.5
991 cystadenoma 9.5
992 benign mesothelioma 9.5
993 acrodermatitis 9.5
994 bronchiolitis obliterans 9.5
995 hypersensitivity reaction type iv disease 9.5
996 newcastle disease 9.5
997 renal artery obstruction 9.5
998 carbohydrate metabolic disorder 9.5
999 acute kidney failure 9.5
1000 grade iii astrocytoma 9.5
1001 mucinoses 9.5
1002 keratoacanthoma 9.5
1003 tropical spastic paraparesis 9.5
1004 complex regional pain syndrome 9.5
1005 central nervous system lymphoma 9.5
1006 rhabdomyosarcoma 9.5
1007 teratoma 9.5
1008 embryonal carcinoma 9.5
1009 central nervous system disease 9.5
1010 mood disorder 9.5
1011 granulomatous myositis 9.5
1012 cerebritis 9.5
1013 breast adenocarcinoma 9.5
1014 breast disease 9.5
1015 plague 9.5
1016 gestational trophoblastic neoplasm 9.5
1017 choriocarcinoma 9.5
1018 retinitis 9.5
1019 vulvitis 9.5
1020 acute myocarditis 9.5
1021 eosinophilic gastritis 9.5
1022 tick infestation 9.5
1023 nail disease 9.5
1024 primary syphilis 9.5
1025 rh isoimmunization 9.5
1026 hyperglycemia 9.5
1027 spindle cell sarcoma 9.5
1028 polyradiculoneuropathy 9.5
1029 burning mouth syndrome 9.5
1030 amelanotic melanoma 9.5
1031 secretory meningioma 9.5
1032 lymphoplasmacyte-rich meningioma 9.5
1033 holoprosencephaly 9.5
1034 suppurative lymphadenitis 9.5
1035 indolent systemic mastocytosis 9.5
1036 uremia 9.5
1037 endophthalmitis 9.5
1038 brain edema 9.5
1039 atrophic rhinitis 9.5
1040 subacute glomerulonephritis 9.5
1041 mesangial proliferative glomerulonephritis 9.5
1042 sm-ahnmd 9.5
1043 cavernous hemangioma 9.5
1044 poliomyelitis 9.5
1045 epidermolysis bullosa dystrophica 9.5
1046 essential tremor 9.5
1047 thyroid gland disease 9.5
1048 plexiform neurofibroma 9.5
1049 infertility 9.5
1050 hydrarthrosis 9.5
1051 colonic disease 9.5
1052 scrapie 9.5
1053 t-cell adult acute lymphocytic leukemia 9.5
1054 histiocytic and dendritic cell cancer 9.5
1055 follicular dendritic cell sarcoma 9.5
1056 fibromyalgia 9.5
1057 viral encephalitis 9.5
1058 inherited metabolic disorder 9.5
1059 cerebrovascular disease 9.5
1060 langerhans cell sarcoma 9.5
1061 malignant pleural mesothelioma 9.5
1062 diverticulitis 9.5
1063 muscular atrophy 9.5
1064 epilepsy with generalized tonic-clonic seizures 9.5
1065 childhood leukemia 9.5
1066 end stage renal failure 9.5
1067 chronic kidney disease 9.5
1068 interdigitating dendritic cell sarcoma 9.5
1069 mediastinitis 9.5
1070 periapical periodontitis 9.5
1071 actinomycosis 9.5
1072 bullous skin disease 9.5
1073 impetigo 9.5
1074 monocytic leukemia 9.5
1075 sezary's disease 9.5
1076 malignant histiocytosis 9.5
1077 nervous system disease 9.5
1078 gastroduodenitis 9.5
1079 bacterial pneumonia 9.5
1080 pityriasis rosea 9.5
1081 skin melanoma 9.5
1082 atrophic gastritis 9.5
1083 autosomal dominant polycystic kidney disease 9.5
1084 parapsoriasis 9.5
1085 eczema herpeticum 9.5
1086 lymphangitis 9.5
1087 exophthalmos 9.5
1088 intracranial hypertension 9.5
1089 fatty liver disease 9.5
1090 otitis externa 9.5
1091 neurofibroma 9.5
1092 yellow fever 9.5
1093 bacterial conjunctivitis 9.5
1094 polyarteritis nodosa 9.5
1095 refractive error 9.5
1096 miliary tuberculosis 9.5
1097 limb-girdle muscular dystrophy 9.5
1098 myotonic dystrophy 9.5
1099 49, xxxxx 9.5
1100 fgfr-related craniosynostosis syndromes 9.5
1101 genetic prion diseases 9.5
1102 acquired hemophilia 9.5
1103 acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 9.5
1104 autoimmune encephalitis 9.5
1105 autoimmune enteropathy 9.5
1106 autoimmune myocarditis 9.5
1107 cold agglutinin disease 9.5
1108 cutaneous larva migrans 9.5
1109 cutis verticis gyrata 9.5
1110 drug reaction with eosinophilia and systemic symptoms 9.5
1111 dwarfism 9.5
1112 exfoliative dermatitis 9.5
1113 fournier gangrene 9.5
1114 germ cells tumors 9.5
1115 granulocytopenia 9.5
1116 hereditary amyloidosis 9.5
1117 htlv-1 associated myelopathy/tropical spastic paraparesis 9.5
1118 ichthyosis linearis circumflexa 9.5
1119 immunoglobulin g deficiency 9.5
1120 lymphangiectasis 9.5
1121 lymphoma aids related 9.5
1122 lymphomatoid papulosis 9.5
1123 mollaret meningitis 9.5
1124 neurosyphilis 9.5
1125 pityriasis lichenoides 9.5
1126 post-transplant lymphoproliferative disease 9.5
1127 postorgasmic illness syndrome 9.5
1128 primary agammaglobulinemia 9.5
1129 primary central nervous system lymphoma 9.5
1130 pulmonary sequestration 9.5
1131 pustular psoriasis 9.5
1132 rheumatoid vasculitis 9.5
1133 scleromyxedema 9.5
1134 spastic paraparesis 9.5
1135 spondylarthropathy 9.5
1136 t-cell lymphoma 1a 9.5
1137 transverse myelitis 9.5
1138 tuberculous meningitis 9.5
1139 undifferentiated connective tissue disease 9.5
1140 vulvar vestibulitis syndrome 9.5
1141 pacs1 syndrome 9.5
1142 raynaud phenomenon 9.5
1143 abdominal wall defect 9.5
1144 genetic epilepsy with febrile seizures plus 9.5
1145 cerebral aneurysms 9.5
1146 chronic pain 9.5
1147 febrile seizures 9.5
1148 hypotonia 9.5
1149 hypoxia 9.5
1150 spinal cord injury 9.5
1151 tremor 9.5
1152 refractory anemia with excess blasts in transformation 9.5
1153 b-cell non-hodgkin lymphoma 9.5
1154 asbestos intoxication 9.5
1155 rare systemic disease 9.5
1156 idiopathic eosinophilic pneumonia 9.5
1157 obsolete: atypical teratoid/rhabdoid tumor 9.5
1158 complex chromosomal rearrangement 9.5
1159 microform holoprosencephaly 9.5
1160 rare hereditary hemochromatosis 9.5
1161 toxic oil syndrome 9.5
1162 chronic actinic dermatitis 9.5
1163 intermittent hydrarthrosis 9.5
1164 ring chromosome 9.5
1165 acute encephalopathy with biphasic seizures and late reduced diffusion 9.5
1166 fixed drug eruption 9.5
1167 acute generalized exanthematous pustulosis 9.5
1168 eosinophilic colitis 9.5
1169 ah amyloidosis 9.5
1170 moyamoya angiopathy 9.5
1171 paraneoplastic pemphigus 9.5
1172 obsolete: combined hyperlipidemia 9.5
1173 acute liver failure 9.5
1174 complications after hematopoietic stem cell transplantation 9.5
1175 histiocytic sarcoma 9.5
1176 fungal keratitis 9.5
1177 lymphedema 9.5
1178 autoimmune bullous skin disease 9.5
1179 paternal uniparental disomy 9.5
1180 rare tumor 9.5
1181 rare surgical neurologic disease 9.5
1182 severe immune-mediated enteropathy 9.5
1183 light and heavy chain deposition disease 9.5
1184 heavy chain deposition disease 9.5
1185 thrombotic microangiopathy 9.5
1186 laminopathy 9.5
1187 polyendocrinopathy 9.5
1188 streptococcal toxic-shock syndrome 9.5
1189 eustachian tube disease 9.4 SLC6A20 SLC36A2
1190 hartnup disorder 8.5 SLC6A20 SLC6A19 SLC6A18 SLC36A1

Graphical network of the top 20 diseases related to Iminoglycinuria:



Diseases related to Iminoglycinuria

Symptoms & Phenotypes for Iminoglycinuria

Human phenotypes related to Iminoglycinuria:

31 (showing 5, show less)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 abnormality of the eye 31 HP:0000478
3 prolinuria 31 HP:0003137
4 hyperglycinuria 31 HP:0003108
5 hydroxyprolinuria 31 HP:0003080

Symptoms via clinical synopsis from OMIM:

56
Laboratory Abnormalities:
prolinuria
hydroxyprolinuria
iminoglycinuria
hyperglycinuria (also present in heterozygotes)

Clinical features from OMIM:

242600

GenomeRNAi Phenotypes related to Iminoglycinuria according to GeneCards Suite gene sharing:

26 (showing 23, show less)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.83 SLC36A2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-114 9.83 SLC6A18 SLC6A20
3 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.83 SLC6A18
4 Increased shRNA abundance (Z-score > 2) GR00366-A-121 9.83 SLC36A2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.83 SLC36A2
6 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.83 SLC36A2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.83 SLC36A2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-158 9.83 SLC36A2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-162 9.83 SLC36A2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-164 9.83 SLC6A18
11 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.83 SLC6A20
12 Increased shRNA abundance (Z-score > 2) GR00366-A-185 9.83 SLC6A18
13 Increased shRNA abundance (Z-score > 2) GR00366-A-189 9.83 SLC6A20
14 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.83 SLC36A2 SLC6A18
15 Increased shRNA abundance (Z-score > 2) GR00366-A-200 9.83 SLC6A20
16 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.83 SLC6A20
17 Increased shRNA abundance (Z-score > 2) GR00366-A-35 9.83 SLC6A18
18 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.83 SLC36A2
19 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.83 SLC6A18
20 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.83 SLC6A18
21 Increased shRNA abundance (Z-score > 2) GR00366-A-5 9.83 SLC36A2
22 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.83 SLC6A20
23 Decreased human papilloma virus 16 (HPV16) pseudovirus infection GR00306-A 9.13 SLC36A1 SLC36A2 SLC6A20

Drugs & Therapeutics for Iminoglycinuria

Search Clinical Trials , NIH Clinical Center for Iminoglycinuria

Genetic Tests for Iminoglycinuria

Genetic tests related to Iminoglycinuria:

# Genetic test Affiliating Genes
1 Iminoglycinuria 29 SLC36A2 SLC6A19 SLC6A20

Anatomical Context for Iminoglycinuria

MalaCards organs/tissues related to Iminoglycinuria:

40
Eye, Retina, Kidney, Cortex, Skin

Publications for Iminoglycinuria

Articles related to Iminoglycinuria:

(showing 46, show less)
# Title Authors PMID Year
1
Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters. 61 6 56
19033659 2008
2
Atypical gyrate atrophy of the choroid and retina and iminoglycinuria. 61 56
7314117 1981
3
Familial iminoglycinuria with normal intestinal absorption of glycine and imino acids in association with profound mental retardation, a possible "cerebral phenotype". 56 61
955941 1976
4
Renal iminoglycinuria without intestinal malabsorption of glycine and imino acids. 61 56
5308714 1970
5
Familial iminoglycinuria. An inborn error of renal tubular transport. 61 56
5652624 1968
6
Cystathioninuria and renal iminoglycinuria in a pedigree. 56 61
5644557 1968
7
Iminoaciduria: a benign renal tubular defect. 56
5567964 1971
8
Renal tubular transport of proline, hydroxyproline, and glycine. 3. Genetic basis for more than one mode of transport in human kidney. 56
5641621 1968
9
Impaired intestinal transport of proline in a patient with familial iminoaciduria. 56
6029472 1967
10
Prolinuria: a new renal tubular defect in transport of proline and glycine. 56
5864167 1965
11
Isolation and function of the amino acid transporter PAT1 (slc36a1) from rabbit and discrimination between transport via PAT1 and system IMINO in renal brush-border membrane vesicles. 61 54
16373326 2005
12
Amino Acid Transport Across the Mammalian Intestine. 61
30549024 2018
13
Intestinal IMINO transporter SIT1 is not expressed in human newborns. 61
30160974 2018
14
Human intestine luminal ACE2 and amino acid transporter expression increased by ACE-inhibitors. 61
25534429 2015
15
Diseases associated with general amino acid transporters of the solute carrier 6 family (SLC6). 61
23876153 2013
16
The SLC36 family of proton-coupled amino acid transporters and their potential role in drug transport. 61
21501141 2011
17
A genome-wide association study of metabolic traits in human urine. 61
21572414 2011
18
Renal imino acid and glycine transport system ontogeny and involvement in developmental iminoglycinuria. 61
20377526 2010
19
Sodium translocation by the iminoglycinuria associated imino transporter (SLC6A20). 61
19657969 2009
20
Apical transporters for neutral amino acids: physiology and pathophysiology. 61
18400692 2008
21
Aminoacidurias: Clinical and molecular aspects. 61
18200002 2008
22
Amino acid transport across mammalian intestinal and renal epithelia. 61
18195088 2008
23
The molecular basis of neutral aminoacidurias. 61
16052352 2006
24
Is hyperprolinemia type I actually a benign trait? Report of a case with severe neurologic involvement and vigabatrin intolerance. 61
11510941 2001
25
[Familial iminoglycinuria]. 61
9645136 1998
26
[Coffin-Lowry syndrome and hyperprolinemia]. 61
8135609 1993
27
Iminoglycinuria: a benign type of inherited aminoaciduria. 61
7504361 1993
28
[Inherited amino acid transport disorders]. 61
1404888 1992
29
[A case of type I hyperprolinemia associated with photogenic epilepsy]. 61
1994998 1991
30
A Fukuyama type of congenital muscular dystrophy associated with atypical gyrate atrophy of the choroid and retina. A case report. 61
4003043 1985
31
[Patterns of urinary aminoacid excretion in exceptional children and patients with mental disorders in Costa Rica]. 61
6665250 1983
32
Neonatal iminoglycinuria: evidence that the prolinuria originates in selective deficiency of transport activity in the proximal nephron. 61
7110792 1982
33
Atypical gyrate atrophy of the choroid and retina associated with iminoglycinuria. 61
7065959 1982
34
Urine screening for aminoacidopathies: is it beneficial? Results of a long-term follow-up of cases detected bny screening one millon babies. 61
7411317 1980
35
Combined iminoglycinuria and cystine- and dibasic aminoaciduria in patients with propionic acidaemia and 3-methylcrotonylglycinuria. 61
6775144 1980
36
Review of Metabolic Screening Program of Children's Hospital, Vancouver, British Columbia. 1971--1977. 61
519848 1979
37
Cystathioninuria, renal iminoglycinuria and...alpha 1-antitrypsin...deficiency in the same family: relevance in medical practice. 61
313837 1979
38
Uptake of glycine by human kidney cortex. 61
449705 1979
39
Ontogeny of amino acid reabsorption in human kidney. Evidence from the homozygous infant with familial renal iminoglycinuria for multiple proline and glycine systems. 61
432003 1979
40
A new type of heterozygote of familial renal iminoglycinuria. 61
732833 1978
41
Transport of amino acids in renal brush border membrane vesicles. Uptake of L-proline. 61
833146 1977
42
Type II hyperprolinemia. Delta1-pyrroline-5-carboxylic acid dehydrogenase deficiency in cultured skin fibroblasts and circulating lymphocytes. 61
956388 1976
43
Proceedings: Familial iminoglycinuria with normal intestinal absorption of glycine and imino acids. 61
1205812 1975
44
Iminoglycinuria in a child in Czechoslovakia. 61
4744406 1973
45
Iminoglycinuria. A defect of renal tubular transport. 61
5042951 1972
46
Iminoglycinuria--a "harmless" inborn error of metabolism? 61
5713621 1968

Variations for Iminoglycinuria

ClinVar genetic disease variations for Iminoglycinuria:

6 (showing 5, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC6A19 NM_001003841.3(SLC6A19):c.1017-4G>ASNV Pathogenic 2021 rs35329108 5:1216900-1216900 5:1216785-1216785
2 SLC36A2 NM_181776.3(SLC36A2):c.260G>T (p.Gly87Val)SNV Pathogenic 2384 rs77010315 5:150723155-150723155 5:151343594-151343594
3 SLC36A2 SLC36A2, IVS1, G-A, +1SNV Pathogenic 2385
4 SLC6A19 NM_001003841.3(SLC6A19):c.517G>A (p.Asp173Asn)SNV Pathogenic/Likely pathogenic 2019 rs121434346 5:1212453-1212453 5:1212338-1212338
5 SLC6A20 NM_020208.4(SLC6A20):c.596C>T (p.Thr199Met)SNV Likely benign 4845 rs17279437 3:45814094-45814094 3:45772602-45772602

UniProtKB/Swiss-Prot genetic disease variations for Iminoglycinuria:

73 (showing 1, show less)
# Symbol AA change Variation ID SNP ID
1 SLC36A2 p.Gly87Val VAR_064795 rs77010315

Expression for Iminoglycinuria

Search GEO for disease gene expression data for Iminoglycinuria.

Pathways for Iminoglycinuria

Pathways related to Iminoglycinuria according to KEGG:

36 (showing 2, show less)
# Name Kegg Source Accession
1 Protein digestion and absorption hsa04974
2 Mineral absorption hsa04978

Pathways related to Iminoglycinuria according to GeneCards Suite gene sharing:

(showing 4, show less)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.48 SLC6A20 SLC6A19 SLC6A18 SLC36A2 SLC36A1
2
Show member pathways
12.16 SLC6A19 SLC36A2 SLC36A1
3 11.49 SLC6A20 SLC6A19 SLC6A18
4
Show member pathways
10.54 SLC6A20 SLC6A19 SLC6A18 SLC36A2 SLC36A1

GO Terms for Iminoglycinuria

Cellular components related to Iminoglycinuria according to GeneCards Suite gene sharing:

(showing 4, show less)
# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 9.65 SLC6A20 SLC6A19 SLC6A18 SLC36A2 SLC36A1
2 plasma membrane GO:0005886 9.55 SLC6A20 SLC6A19 SLC6A18 SLC36A2 SLC36A1
3 brush border membrane GO:0031526 8.96 SLC6A19 SLC6A18
4 apical plasma membrane GO:0016324 8.8 SLC6A20 SLC6A19 SLC6A18

Biological processes related to Iminoglycinuria according to GeneCards Suite gene sharing:

(showing 10, show less)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.63 SLC6A20 SLC6A19 SLC6A18
2 neurotransmitter transport GO:0006836 9.54 SLC6A20 SLC6A19 SLC6A18
3 glycine transport GO:0015816 9.5 SLC6A20 SLC36A2 SLC36A1
4 proton transmembrane transport GO:1902600 9.48 SLC36A2 SLC36A1
5 neutral amino acid transport GO:0015804 9.43 SLC6A19 SLC36A1
6 proline transport GO:0015824 9.43 SLC6A20 SLC36A2 SLC36A1
7 L-alanine transport GO:0015808 9.4 SLC36A2 SLC36A1
8 proline transmembrane transport GO:0035524 9.33 SLC6A20 SLC36A2 SLC36A1
9 amino acid transmembrane transport GO:0003333 9.26 SLC6A19 SLC6A18 SLC36A2 SLC36A1
10 amino acid transport GO:0006865 9.02 SLC6A20 SLC6A19 SLC6A18 SLC36A2 SLC36A1

Molecular functions related to Iminoglycinuria according to GeneCards Suite gene sharing:

(showing 9, show less)
# Name GO ID Score Top Affiliating Genes
1 proton transmembrane transporter activity GO:0015078 9.46 SLC36A2 SLC36A1
2 symporter activity GO:0015293 9.46 SLC6A20 SLC6A19 SLC6A18 SLC36A1
3 neutral amino acid transmembrane transporter activity GO:0015175 9.43 SLC6A19 SLC36A1
4 neurotransmitter:sodium symporter activity GO:0005328 9.43 SLC6A20 SLC6A19 SLC6A18
5 glycine transmembrane transporter activity GO:0015187 9.4 SLC36A2 SLC36A1
6 L-alanine transmembrane transporter activity GO:0015180 9.37 SLC36A2 SLC36A1
7 amino acid:proton symporter activity GO:0005280 9.32 SLC36A2 SLC36A1
8 L-proline transmembrane transporter activity GO:0015193 9.13 SLC6A20 SLC36A2 SLC36A1
9 amino acid transmembrane transporter activity GO:0015171 9.02 SLC6A20 SLC6A19 SLC6A18 SLC36A2 SLC36A1

Sources for Iminoglycinuria

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